Canonical Allele Identifier: CA386293450

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1318052203
• gnomAD v2: 12-102151350-C-T
• gnomAD v3: 12-101757572-C-T
• gnomAD v4: 12-101757572-C-T
• MyVariant Identifiers: chr12:g.102151350C>T (hg19) ; chr12:g.101757572C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757572C>T , CM000674.2:g.101757572C>T	GRCh38
NC_000012.11:g.102151350C>T , CM000674.1:g.102151350C>T	GRCh37
NC_000012.10:g.100675481C>T	NCBI36
NG_021243.1:g.78296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3335G>A MANE Select	ENSP00000299314.7:p.Arg1112Lys
ENST00000299314.11:c.3335G>A	ENSP00000299314.7:p.Arg1112Lys
ENST00000549194.1:n.201G>A
ENST00000549738.5:c.86G>A	ENSP00000450161.1:p.Arg29Lys
ENST00000550718.1:c.147G>A
NM_024312.4:c.3335G>A	NP_077288.2:p.Arg1112Lys
XM_006719593.2:c.3335G>A	XP_006719656.1:p.Arg1112Lys
XM_011538731.1:c.3254G>A	XP_011537033.1:p.Arg1085Lys
XM_006719593.3:c.3335G>A	XP_006719656.1:p.Arg1112Lys
XM_011538731.2:c.3254G>A	XP_011537033.1:p.Arg1085Lys
XM_017019961.1:c.3119G>A	XP_016875450.1:p.Arg1040Lys
XM_017019962.2:c.2108G>A	XP_016875451.1:p.Arg703Lys
NM_024312.5:c.3335G>A MANE Select	NP_077288.2:p.Arg1112Lys