Canonical Allele Identifier: CA386493074
Gene: PAH HGNC NCBI

Linked Data

COSMIC: COSM430187
MyVariant Identifiers: chr12:g.103234267G>T (hg19) chr12:g.102840489G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840489G>T , CM000674.2:g.102840489G>T GRCh38
NC_000012.11:g.103234267G>T , CM000674.1:g.103234267G>T GRCh37
NC_000012.10:g.101758397G>T NCBI36
NG_008690.1:g.82114C>A
NG_008690.2:g.122922C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1226C>A MANE Select ENSP00000448059.1:p.Pro409His
ENST00000307000.7:c.1211C>A ENSP00000303500.2:p.Pro404His
ENST00000551114.2:n.888C>A
ENST00000553106.5:c.1226C>A ENSP00000448059.1:p.Pro409His
ENST00000635477.1:c.330C>A
ENST00000635528.1:n.741C>A
NM_000277.1:c.1226C>A NP_000268.1:p.Pro409His
XM_011538422.1:c.1169C>A XP_011536724.1:p.Pro390His
NM_000277.2:c.1226C>A NP_000268.1:p.Pro409His
NM_001354304.1:c.1226C>A NP_001341233.1:p.Pro409His
NM_000277.3:c.1226C>A MANE Select NP_000268.1:p.Pro409His
NM_001354304.2:c.1226C>A NP_001341233.1:p.Pro409His
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