Canonical Allele Identifier: CA2620511506

Gene: PAH

Linked Data

• gnomAD v4: 12-102917375-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917375G>C , CM000674.2:g.102917375G>C	GRCh38
NC_000012.11:g.103311153G>C , CM000674.1:g.103311153G>C	GRCh37
NC_000012.10:g.101835283G>C	NCBI36
NG_008690.1:g.5229C>G
NG_008690.2:g.46036C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546708.5:n.493-150C>G
ENST00000546844.1:c.-95-150C>G	ENSP00000446658.1:n.-95-150C>G
ENST00000547319.1:n.217-150C>G
ENST00000551337.5:c.-95-150C>G	ENSP00000447620.1:n.-95-150C>G
ENST00000553106.5:c.-245C>G	ENSP00000448059.1:n.-245C>G
ENST00000635500.1:n.29-4477C>G
NM_000277.1:c.-244C>G	NP_000268.1:n.-244C>G
NM_000277.2:c.-245C>G	NP_000268.1:n.-245C>G
NM_001354304.1:c.-95-150C>G	NP_001341233.1:n.-95-150C>G
NM_001354304.2:c.-95-150C>G	NP_001341233.1:n.-95-150C>G