Canonical Allele Identifier: CA682819261

Gene: PAH

Linked Data

• dbSNP Id: rs1435793224
• gnomAD v3: 12-102917340-T-G
• gnomAD v4: 12-102917340-T-G
• MyVariant Identifiers: chr12:g.103311118T>G (hg19) ; chr12:g.102917340T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917340T>G , CM000674.2:g.102917340T>G	GRCh38
NC_000012.11:g.103311118T>G , CM000674.1:g.103311118T>G	GRCh37
NC_000012.10:g.101835248T>G	NCBI36
NG_008690.1:g.5264A>C
NG_008690.2:g.46071A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-115A>C
ENST00000546844.1:c.-95-115A>C	ENSP00000446658.1:n.-95-115A>C
ENST00000547319.1:n.217-115A>C
ENST00000551337.5:c.-95-115A>C	ENSP00000447620.1:n.-95-115A>C
ENST00000553106.5:c.-210A>C	ENSP00000448059.1:n.-210A>C
ENST00000635500.1:n.29-4442A>C
NM_000277.1:c.-209A>C	NP_000268.1:n.-209A>C
NM_000277.2:c.-210A>C	NP_000268.1:n.-210A>C
NM_001354304.1:c.-95-115A>C	NP_001341233.1:n.-95-115A>C
NM_001354304.2:c.-95-115A>C	NP_001341233.1:n.-95-115A>C