Canonical Allele Identifier: CA242473610
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1014030234
gnomAD v2: 12-103248607-C-CA
gnomAD v3: 12-102854829-C-CA
gnomAD v4: 12-102854829-C-CA
MyVariant Identifiers: chr12:g.103248612_103248613insA (hg19) chr12:g.103248607_103248608insA (hg19) chr12:g.102854834_102854835insA (hg38) chr12:g.102854829_102854830insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854838dup , CM000674.2:g.102854838dup GRCh38
NC_000012.11:g.103248616dup , CM000674.1:g.103248616dup GRCh37
NC_000012.10:g.101772746dup NCBI36
NG_008690.1:g.67773dup
NG_008690.2:g.108581dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+306dup MANE Select ENSP00000448059.1:n.706+306dup
ENST00000307000.7:c.691+306dup ENSP00000303500.2:n.691+306dup
ENST00000549111.5:n.1108dup
ENST00000553106.5:c.706+306dup ENSP00000448059.1:n.706+306dup
NM_000277.1:c.706+306dup NP_000268.1:n.706+306dup
XM_011538422.1:c.706+306dup XP_011536724.1:n.706+306dup
NM_000277.2:c.706+306dup NP_000268.1:n.706+306dup
NM_001354304.1:c.706+306dup NP_001341233.1:n.706+306dup
XM_017019370.2:c.707-29dup XP_016874859.1:n.707-29dup
NM_000277.3:c.706+306dup MANE Select NP_000268.1:n.706+306dup
NM_001354304.2:c.706+306dup NP_001341233.1:n.706+306dup
Search 100 bp 5'
Search 100 bp 3'