Canonical Allele Identifier: CA6746687

Gene: GNPTAB

Linked Data

• dbSNP Id: rs373139246
• ExAC: 12:102163902 C / T
• gnomAD v2: 12-102163902-C-T
• gnomAD v4: 12-101770124-C-T
• MyVariant Identifiers: chr12:g.102163902C>T (hg19) ; chr12:g.101770124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770124C>T , CM000674.2:g.101770124C>T	GRCh38
NC_000012.11:g.102163902C>T , CM000674.1:g.102163902C>T	GRCh37
NC_000012.10:g.100688033C>T	NCBI36
NG_021243.1:g.65744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1181G>A MANE Select	ENSP00000299314.7:p.Arg394His
ENST00000299314.11:c.1181G>A	ENSP00000299314.7:p.Arg394His
ENST00000549940.5:c.1181G>A	ENSP00000449150.1:p.Arg394His
NM_024312.4:c.1181G>A	NP_077288.2:p.Arg394His
XM_006719593.2:c.1181G>A	XP_006719656.1:p.Arg394His
XM_011538731.1:c.1100G>A	XP_011537033.1:p.Arg367His
XM_006719593.3:c.1181G>A	XP_006719656.1:p.Arg394His
XM_011538731.2:c.1100G>A	XP_011537033.1:p.Arg367His
XM_017019961.1:c.965G>A	XP_016875450.1:p.Arg322His
XM_017019962.2:c.-47G>A	XP_016875451.1:n.-47G>A
NM_024312.5:c.1181G>A MANE Select	NP_077288.2:p.Arg394His