Canonical Allele Identifier: CA6746322

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1150534
• ClinVar RCV Id: RCV001491171
• dbSNP Id: rs762722597
• ExAC: 12:102155350 C / A
• gnomAD v2: 12-102155350-C-A
• gnomAD v4: 12-101761572-C-A
• MyVariant Identifiers: chr12:g.102155350C>A (hg19) ; chr12:g.101761572C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761572C>A , CM000674.2:g.101761572C>A	GRCh38
NC_000012.11:g.102155350C>A , CM000674.1:g.102155350C>A	GRCh37
NC_000012.10:g.100679481C>A	NCBI36
NG_021243.1:g.74296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2907G>T MANE Select	ENSP00000299314.7:p.Leu969=
ENST00000299314.11:c.2907G>T	ENSP00000299314.7:p.Leu969=
NM_024312.4:c.2907G>T	NP_077288.2:p.Leu969=
XM_006719593.2:c.2907G>T	XP_006719656.1:p.Leu969=
XM_011538731.1:c.2826G>T	XP_011537033.1:p.Leu942=
XM_006719593.3:c.2907G>T	XP_006719656.1:p.Leu969=
XM_011538731.2:c.2826G>T	XP_011537033.1:p.Leu942=
XM_017019961.1:c.2691G>T	XP_016875450.1:p.Leu897=
XM_017019962.2:c.1680G>T	XP_016875451.1:p.Leu560=
NM_024312.5:c.2907G>T MANE Select	NP_077288.2:p.Leu969=