Canonical Allele Identifier: CA6746495

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 496455
• ClinVar RCV Id: RCV000586492 ; RCV000884983 ; RCV001276852
• dbSNP Id: rs112000802
• ExAC: 12:102158709 C / T
• gnomAD v2: 12-102158709-C-T
• gnomAD v3: 12-101764931-C-T
• gnomAD v4: 12-101764931-C-T
• MyVariant Identifiers: chr12:g.102158709C>T (hg19) ; chr12:g.101764931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764931C>T , CM000674.2:g.101764931C>T	GRCh38
NC_000012.11:g.102158709C>T , CM000674.1:g.102158709C>T	GRCh37
NC_000012.10:g.100682840C>T	NCBI36
NG_021243.1:g.70937G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1986G>A MANE Select	ENSP00000299314.7:p.Ala662=
ENST00000299314.11:c.1986G>A	ENSP00000299314.7:p.Ala662=
NM_024312.4:c.1986G>A	NP_077288.2:p.Ala662=
XM_006719593.2:c.1986G>A	XP_006719656.1:p.Ala662=
XM_011538731.1:c.1905G>A	XP_011537033.1:p.Ala635=
XM_006719593.3:c.1986G>A	XP_006719656.1:p.Ala662=
XM_011538731.2:c.1905G>A	XP_011537033.1:p.Ala635=
XM_017019961.1:c.1770G>A	XP_016875450.1:p.Ala590=
XM_017019962.2:c.759G>A	XP_016875451.1:p.Ala253=
NM_024312.5:c.1986G>A MANE Select	NP_077288.2:p.Ala662=