Canonical Allele Identifier: CA242469903
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs752017043
gnomAD v3: 12-102851206-G-T
gnomAD v4: 12-102851206-G-T
MyVariant Identifiers: chr12:g.103244984G>T (hg19) chr12:g.102851206G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851206G>T , CM000674.2:g.102851206G>T GRCh38
NC_000012.11:g.103244984G>T , CM000674.1:g.103244984G>T GRCh37
NC_000012.10:g.101769114G>T NCBI36
NG_008690.1:g.71397C>A
NG_008690.2:g.112205C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.912+481C>A MANE Select ENSP00000448059.1:n.912+481C>A
ENST00000307000.7:c.897+481C>A ENSP00000303500.2:n.897+481C>A
ENST00000549247.6:n.671+481C>A
ENST00000551114.2:n.574+481C>A
ENST00000553106.5:c.912+481C>A ENSP00000448059.1:n.912+481C>A
ENST00000635477.1:c.73+481C>A
NM_000277.1:c.912+481C>A NP_000268.1:n.912+481C>A
XM_011538422.1:c.912+481C>A XP_011536724.1:n.912+481C>A
NM_000277.2:c.912+481C>A NP_000268.1:n.912+481C>A
NM_001354304.1:c.912+481C>A NP_001341233.1:n.912+481C>A
NM_000277.3:c.912+481C>A MANE Select NP_000268.1:n.912+481C>A
NM_001354304.2:c.912+481C>A NP_001341233.1:n.912+481C>A
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