Canonical Allele Identifier: CA951260955

Gene: PAH

Linked Data

• dbSNP Id: rs1390152836
• gnomAD v3: 12-102917332-C-G
• gnomAD v4: 12-102917332-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917332C>G , CM000674.2:g.102917332C>G	GRCh38
NC_000012.11:g.103311110C>G , CM000674.1:g.103311110C>G	GRCh37
NC_000012.10:g.101835240C>G	NCBI36
NG_008690.1:g.5272G>C
NG_008690.2:g.46079G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-107G>C
ENST00000546844.1:c.-95-107G>C	ENSP00000446658.1:n.-95-107G>C
ENST00000547319.1:n.217-107G>C
ENST00000551337.5:c.-95-107G>C	ENSP00000447620.1:n.-95-107G>C
ENST00000553106.5:c.-202G>C	ENSP00000448059.1:n.-202G>C
ENST00000635500.1:n.29-4434G>C
NM_000277.1:c.-201G>C	NP_000268.1:n.-201G>C
NM_000277.2:c.-202G>C	NP_000268.1:n.-202G>C
NM_001354304.1:c.-95-107G>C	NP_001341233.1:n.-95-107G>C
NM_001354304.2:c.-95-107G>C	NP_001341233.1:n.-95-107G>C