Canonical Allele Identifier: CA6746287

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 397568
• ClinVar RCV Id: RCV002469150 ; RCV003221982 ; RCV000449553
• dbSNP Id: rs769587233
• ExAC: 12:102155084 G / A
• gnomAD v2: 12-102155084-G-A
• gnomAD v3: 12-101761306-G-A
• gnomAD v4: 12-101761306-G-A
• COSMIC: COSM4038026
• MyVariant Identifiers: chr12:g.102155084G>A (hg19) ; chr12:g.101761306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761306G>A , CM000674.2:g.101761306G>A	GRCh38
NC_000012.11:g.102155084G>A , CM000674.1:g.102155084G>A	GRCh37
NC_000012.10:g.100679215G>A	NCBI36
NG_021243.1:g.74562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2956C>T MANE Select	ENSP00000299314.7:p.Arg986Cys
ENST00000299314.11:c.2956C>T	ENSP00000299314.7:p.Arg986Cys
NM_024312.4:c.2956C>T	NP_077288.2:p.Arg986Cys
XM_006719593.2:c.2956C>T	XP_006719656.1:p.Arg986Cys
XM_011538731.1:c.2875C>T	XP_011537033.1:p.Arg959Cys
XM_006719593.3:c.2956C>T	XP_006719656.1:p.Arg986Cys
XM_011538731.2:c.2875C>T	XP_011537033.1:p.Arg959Cys
XM_017019961.1:c.2740C>T	XP_016875450.1:p.Arg914Cys
XM_017019962.2:c.1729C>T	XP_016875451.1:p.Arg577Cys
NM_024312.5:c.2956C>T MANE Select	NP_077288.2:p.Arg986Cys