Canonical Allele Identifier: CA057308

Gene: PAH

Linked Data

• PubMed: PMID:2574153 ; PMID:9429153

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.[102852903G>A;102878057C>A] , CM000674.2:g.[102852903G>A;102878057C>A]	GRCh38
NC_000012.11:g.[103246681G>A;103271835C>A] , CM000674.1:g.[103246681G>A;103271835C>A]	GRCh37
NC_000012.10:g.[101770811G>A;101795965C>A]	NCBI36
NG_008690.1:g.[44546G>T;69700C>T]
NG_008690.2:g.[85354G>T;110508C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.[353-507G>T;754C>T] MANE Select	ENSP00000448059.1:p.Arg252Trp
ENST00000307000.7:c.[338-507G>T;739C>T]	ENSP00000303500.2:p.Arg247Trp
ENST00000553106.5:c.[353-507G>T;754C>T]	ENSP00000448059.1:p.Arg252Trp
NM_000277.1:c.[353-507G>T;754C>T]	NP_000268.1:p.Arg252Trp
XM_011538422.1:c.[353-507G>T;754C>T]	XP_011536724.1:p.Arg252Trp
NM_000277.2:c.[353-507G>T;754C>T]	NP_000268.1:p.Arg252Trp
NM_001354304.1:c.[353-507G>T;754C>T]	NP_001341233.1:p.Arg252Trp
NM_000277.3:c.[353-507G>T;754C>T] MANE Select	NP_000268.1:p.Arg252Trp
NM_001354304.2:c.[353-507G>T;754C>T]	NP_001341233.1:p.Arg252Trp