Canonical Allele Identifier: CA481578631
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.103249095A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855317A>G , CM000674.2:g.102855317A>G GRCh38
NC_000012.11:g.103249095A>G , CM000674.1:g.103249095A>G GRCh37
NC_000012.10:g.101773225A>G NCBI36
NG_008690.1:g.67286T>C
NG_008690.2:g.108094T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.525T>C MANE Select ENSP00000448059.1:p.Pro175=
ENST00000307000.7:c.510T>C ENSP00000303500.2:p.Pro170=
ENST00000549111.5:n.621T>C
ENST00000551988.5:n.546T>C
ENST00000553106.5:c.525T>C ENSP00000448059.1:p.Pro175=
NM_000277.1:c.525T>C NP_000268.1:p.Pro175=
XM_011538422.1:c.525T>C XP_011536724.1:p.Pro175=
NM_000277.2:c.525T>C NP_000268.1:p.Pro175=
NM_001354304.1:c.525T>C NP_001341233.1:p.Pro175=
XM_017019370.2:c.525T>C XP_016874859.1:p.Pro175=
NM_000277.3:c.525T>C MANE Select NP_000268.1:p.Pro175=
NM_001354304.2:c.525T>C NP_001341233.1:p.Pro175=
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