Canonical Allele Identifier: CA2620511709

Gene: PAH

Linked Data

• gnomAD v4: 12-102917404-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917404A>G , CM000674.2:g.102917404A>G	GRCh38
NC_000012.11:g.103311182A>G , CM000674.1:g.103311182A>G	GRCh37
NC_000012.10:g.101835312A>G	NCBI36
NG_008690.1:g.5200T>C
NG_008690.2:g.46007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-179T>C
ENST00000546844.1:c.-95-179T>C	ENSP00000446658.1:n.-95-179T>C
ENST00000547319.1:n.217-179T>C
ENST00000551337.5:c.-95-179T>C	ENSP00000447620.1:n.-95-179T>C
ENST00000553106.5:c.-274T>C	ENSP00000448059.1:n.-274T>C
ENST00000635500.1:n.29-4506T>C
NM_000277.1:c.-273T>C	NP_000268.1:n.-273T>C
NM_000277.2:c.-274T>C	NP_000268.1:n.-274T>C
NM_001354304.1:c.-95-179T>C	NP_001341233.1:n.-95-179T>C
NM_001354304.2:c.-95-179T>C	NP_001341233.1:n.-95-179T>C