Canonical Allele Identifier: CA682806284
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1158649074
gnomAD v4: 12-102854690-G-A
MyVariant Identifiers: chr12:g.103248468G>A (hg19) chr12:g.102854690G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854690G>A , CM000674.2:g.102854690G>A GRCh38
NC_000012.11:g.103248468G>A , CM000674.1:g.103248468G>A GRCh37
NC_000012.10:g.101772598G>A NCBI36
NG_008690.1:g.67913C>T
NG_008690.2:g.108721C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+446C>T MANE Select ENSP00000448059.1:n.706+446C>T
ENST00000307000.7:c.691+446C>T ENSP00000303500.2:n.691+446C>T
ENST00000549111.5:n.1248C>T
ENST00000553106.5:c.706+446C>T ENSP00000448059.1:n.706+446C>T
NM_000277.1:c.706+446C>T NP_000268.1:n.706+446C>T
XM_011538422.1:c.706+446C>T XP_011536724.1:n.706+446C>T
NM_000277.2:c.706+446C>T NP_000268.1:n.706+446C>T
NM_001354304.1:c.706+446C>T NP_001341233.1:n.706+446C>T
XM_017019370.2:c.*95C>T XP_016874859.1:n.*95C>T
NM_000277.3:c.706+446C>T MANE Select NP_000268.1:n.706+446C>T
NM_001354304.2:c.706+446C>T NP_001341233.1:n.706+446C>T
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