Canonical Allele Identifier: CA481320598

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1668224
• ClinVar RCV Id: RCV002191698
• dbSNP Id: rs2137121380
• MyVariant Identifiers: chr12:g.102161930C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101768152C>T , CM000674.2:g.101768152C>T	GRCh38
NC_000012.11:g.102161930C>T , CM000674.1:g.102161930C>T	GRCh37
NC_000012.10:g.100686061C>T	NCBI36
NG_021243.1:g.67716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1293G>A MANE Select	ENSP00000299314.7:p.Leu431=
ENST00000299314.11:c.1293G>A	ENSP00000299314.7:p.Leu431=
ENST00000549940.5:c.1293G>A	ENSP00000449150.1:p.Leu431=
NM_024312.4:c.1293G>A	NP_077288.2:p.Leu431=
XM_006719593.2:c.1293G>A	XP_006719656.1:p.Leu431=
XM_011538731.1:c.1212G>A	XP_011537033.1:p.Leu404=
XM_006719593.3:c.1293G>A	XP_006719656.1:p.Leu431=
XM_011538731.2:c.1212G>A	XP_011537033.1:p.Leu404=
XM_017019961.1:c.1077G>A	XP_016875450.1:p.Leu359=
XM_017019962.2:c.66G>A	XP_016875451.1:p.Leu22=
NM_024312.5:c.1293G>A MANE Select	NP_077288.2:p.Leu431=