Canonical Allele Identifier: CA607158216
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 552806
ClinVar RCV Id: RCV000668138
dbSNP Id: rs1452763334
gnomAD v2: 12-103271332-A-AAAC
gnomAD v4: 12-102877554-A-AAAC
MyVariant Identifiers: chr12:g.103271332_103271333insAAC (hg19) chr12:g.102877555_102877557dup (hg38) chr12:g.102877554_102877555insAAC (hg38)
ERepo: CA607158216/MONDO:0009861/006
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877556_102877558dup , CM000674.2:g.102877556_102877558dup GRCh38
NC_000012.11:g.103271334_103271336dup , CM000674.1:g.103271334_103271336dup GRCh37
NC_000012.10:g.101795464_101795466dup NCBI36
NG_008690.1:g.45046_45048dup
NG_008690.2:g.85854_85856dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.353-7_353-5dup MANE Select ENSP00000448059.1:n.353-7_353-5dup
ENST00000307000.7:c.338-7_338-5dup ENSP00000303500.2:n.338-7_338-5dup
ENST00000549111.5:n.449-7_449-5dup
ENST00000550978.6:c.337-7_337-5dup
ENST00000551337.5:c.353-7_353-5dup ENSP00000447620.1:n.353-7_353-5dup
ENST00000551988.5:n.442-7_442-5dup
ENST00000553106.5:c.353-7_353-5dup ENSP00000448059.1:n.353-7_353-5dup
NM_000277.1:c.353-7_353-5dup NP_000268.1:n.353-7_353-5dup
XM_011538422.1:c.353-7_353-5dup XP_011536724.1:n.353-7_353-5dup
NM_000277.2:c.353-7_353-5dup NP_000268.1:n.353-7_353-5dup
NM_001354304.1:c.353-7_353-5dup NP_001341233.1:n.353-7_353-5dup
XM_017019370.2:c.353-7_353-5dup XP_016874859.1:n.353-7_353-5dup
NM_000277.3:c.353-7_353-5dup MANE Select NP_000268.1:n.353-7_353-5dup
NM_001354304.2:c.353-7_353-5dup NP_001341233.1:n.353-7_353-5dup
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