Canonical Allele Identifier: CA6746644

Gene: GNPTAB

Linked Data

• dbSNP Id: rs752590826
• ExAC: 12:102161829 C / A
• gnomAD v2: 12-102161829-C-A
• MyVariant Identifiers: chr12:g.102161829C>A (hg19) ; chr12:g.101768051C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768051C>A , CM000674.2:g.101768051C>A	GRCh38
NC_000012.11:g.102161829C>A , CM000674.1:g.102161829C>A	GRCh37
NC_000012.10:g.100685960C>A	NCBI36
NG_021243.1:g.67817G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1394G>T MANE Select	ENSP00000299314.7:p.Gly465Val
ENST00000299314.11:c.1394G>T	ENSP00000299314.7:p.Gly465Val
ENST00000549940.5:c.1394G>T	ENSP00000449150.1:p.Gly465Val
ENST00000552009.1:n.53G>T
NM_024312.4:c.1394G>T	NP_077288.2:p.Gly465Val
XM_006719593.2:c.1394G>T	XP_006719656.1:p.Gly465Val
XM_011538731.1:c.1313G>T	XP_011537033.1:p.Gly438Val
XM_006719593.3:c.1394G>T	XP_006719656.1:p.Gly465Val
XM_011538731.2:c.1313G>T	XP_011537033.1:p.Gly438Val
XM_017019961.1:c.1178G>T	XP_016875450.1:p.Gly393Val
XM_017019962.2:c.167G>T	XP_016875451.1:p.Gly56Val
NM_024312.5:c.1394G>T MANE Select	NP_077288.2:p.Gly465Val