Canonical Allele Identifier: CA682819086
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1463687991
gnomAD v4: 12-102917145-A-G
MyVariant Identifiers: chr12:g.103310923A>G (hg19) chr12:g.102917145A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917145A>G , CM000674.2:g.102917145A>G GRCh38
NC_000012.11:g.103310923A>G , CM000674.1:g.103310923A>G GRCh37
NC_000012.10:g.101835053A>G NCBI36
NG_008690.1:g.5458T>C
NG_008690.2:g.46266T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.-15T>C MANE Select ENSP00000448059.1:n.-15T>C
ENST00000307000.7:c.-162T>C ENSP00000303500.2:n.-162T>C
ENST00000546844.1:c.-15T>C ENSP00000446658.1:n.-15T>C
ENST00000547319.1:n.297T>C
ENST00000549111.5:n.82T>C
ENST00000551337.5:c.-15T>C ENSP00000447620.1:n.-15T>C
ENST00000551988.5:n.75T>C
ENST00000553106.5:c.-15T>C ENSP00000448059.1:n.-15T>C
ENST00000635500.1:n.29-4247T>C
NM_000277.1:c.-15T>C NP_000268.1:n.-15T>C
XM_011538422.1:c.-15T>C XP_011536724.1:n.-15T>C
NM_000277.2:c.-15T>C NP_000268.1:n.-15T>C
NM_001354304.1:c.-15T>C NP_001341233.1:n.-15T>C
XM_017019370.2:c.-15T>C XP_016874859.1:n.-15T>C
NM_000277.3:c.-15T>C MANE Select NP_000268.1:n.-15T>C
NM_001354304.2:c.-15T>C NP_001341233.1:n.-15T>C
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