Canonical Allele Identifier: CA386493009
Gene: PAH HGNC NCBI

Linked Data

COSMIC: COSM1358227
MyVariant Identifiers: chr12:g.103234225A>G (hg19) chr12:g.102840447A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840447A>G , CM000674.2:g.102840447A>G GRCh38
NC_000012.11:g.103234225A>G , CM000674.1:g.103234225A>G GRCh37
NC_000012.10:g.101758355A>G NCBI36
NG_008690.1:g.82156T>C
NG_008690.2:g.122964T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1268T>C MANE Select ENSP00000448059.1:p.Val423Ala
ENST00000307000.7:c.1253T>C ENSP00000303500.2:p.Val418Ala
ENST00000551114.2:n.930T>C
ENST00000553106.5:c.1268T>C ENSP00000448059.1:p.Val423Ala
ENST00000635477.1:c.372T>C
ENST00000635528.1:n.783T>C
NM_000277.1:c.1268T>C NP_000268.1:p.Val423Ala
XM_011538422.1:c.1211T>C XP_011536724.1:p.Val404Ala
NM_000277.2:c.1268T>C NP_000268.1:p.Val423Ala
NM_001354304.1:c.1268T>C NP_001341233.1:p.Val423Ala
NM_000277.3:c.1268T>C MANE Select NP_000268.1:p.Val423Ala
NM_001354304.2:c.1268T>C NP_001341233.1:p.Val423Ala
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Search 100 bp 3'