Canonical Allele Identifier: CA356556

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.[101780579T>G;101786038A>T] , CM000674.2:g.[101780579T>G;101786038A>T]	GRCh38
NC_000012.11:g.[102174357T>G;102179816A>T] , CM000674.1:g.[102174357T>G;102179816A>T]	GRCh37
NC_000012.10:g.[100698488T>G;100703947A>T]	NCBI36
NG_021243.1:g.[49830T>A;55289A>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.[545T>A;614A>C] MANE Select	ENSP00000299314.7:p.[Val182Asp;Gln205Pro]
ENST00000299314.11:c.[545T>A;614A>C]	ENSP00000299314.7:p.[Val182Asp;Gln205Pro]
ENST00000549940.5:c.[545T>A;614A>C]	ENSP00000449150.1:p.[Val182Asp;Gln205Pro]
ENST00000552681.1:c.[179T>A;248A>C]	ENSP00000449217.1:p.[Val60Asp;Gln83Pro]
NM_024312.4:c.[545T>A;614A>C]	NP_077288.2:p.[Val182Asp;Gln205Pro]
XM_006719593.2:c.[545T>A;614A>C]	XP_006719656.1:p.[Val182Asp;Gln205Pro]
XM_011538731.1:c.[464T>A;533A>C]	XP_011537033.1:p.[Val155Asp;Gln178Pro]
XM_006719593.3:c.[545T>A;614A>C]	XP_006719656.1:p.[Val182Asp;Gln205Pro]
XM_011538731.2:c.[464T>A;533A>C]	XP_011537033.1:p.[Val155Asp;Gln178Pro]
XM_017019961.1:c.[329T>A;398A>C]	XP_016875450.1:p.[Val110Asp;Gln133Pro]
XM_017019962.2:c.[-806T>A;-737A>C]	XP_016875451.1:n.[-806T>A;-737A>C]
NM_024312.5:c.[545T>A;614A>C] MANE Select	NP_077288.2:p.[Val182Asp;Gln205Pro]