Canonical Allele Identifier: CA6746329

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 744240
• ClinVar RCV Id: RCV000920676 ; RCV001276846
• dbSNP Id: rs368650569
• ExAC: 12:102155371 G / A
• gnomAD v2: 12-102155371-G-A
• gnomAD v3: 12-101761593-G-A
• gnomAD v4: 12-101761593-G-A
• MyVariant Identifiers: chr12:g.102155371G>A (hg19) ; chr12:g.101761593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761593G>A , CM000674.2:g.101761593G>A	GRCh38
NC_000012.11:g.102155371G>A , CM000674.1:g.102155371G>A	GRCh37
NC_000012.10:g.100679502G>A	NCBI36
NG_021243.1:g.74275C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2886C>T MANE Select	ENSP00000299314.7:p.Asp962=
ENST00000299314.11:c.2886C>T	ENSP00000299314.7:p.Asp962=
NM_024312.4:c.2886C>T	NP_077288.2:p.Asp962=
XM_006719593.2:c.2886C>T	XP_006719656.1:p.Asp962=
XM_011538731.1:c.2805C>T	XP_011537033.1:p.Asp935=
XM_006719593.3:c.2886C>T	XP_006719656.1:p.Asp962=
XM_011538731.2:c.2805C>T	XP_011537033.1:p.Asp935=
XM_017019961.1:c.2670C>T	XP_016875450.1:p.Asp890=
XM_017019962.2:c.1659C>T	XP_016875451.1:p.Asp553=
NM_024312.5:c.2886C>T MANE Select	NP_077288.2:p.Asp962=