Canonical Allele Identifier: CA6746323

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 306802
• ClinVar RCV Id: RCV000322774 ; RCV000880925 ; RCV000376997
• dbSNP Id: rs555336070
• ExAC: 12:102155353 T / G
• gnomAD v2: 12-102155353-T-G
• gnomAD v3: 12-101761575-T-G
• gnomAD v4: 12-101761575-T-G
• MyVariant Identifiers: chr12:g.102155353T>G (hg19) ; chr12:g.101761575T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761575T>G , CM000674.2:g.101761575T>G	GRCh38
NC_000012.11:g.102155353T>G , CM000674.1:g.102155353T>G	GRCh37
NC_000012.10:g.100679484T>G	NCBI36
NG_021243.1:g.74293A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2904A>C MANE Select	ENSP00000299314.7:p.Glu968Asp
ENST00000299314.11:c.2904A>C	ENSP00000299314.7:p.Glu968Asp
NM_024312.4:c.2904A>C	NP_077288.2:p.Glu968Asp
XM_006719593.2:c.2904A>C	XP_006719656.1:p.Glu968Asp
XM_011538731.1:c.2823A>C	XP_011537033.1:p.Glu941Asp
XM_006719593.3:c.2904A>C	XP_006719656.1:p.Glu968Asp
XM_011538731.2:c.2823A>C	XP_011537033.1:p.Glu941Asp
XM_017019961.1:c.2688A>C	XP_016875450.1:p.Glu896Asp
XM_017019962.2:c.1677A>C	XP_016875451.1:p.Glu559Asp
NM_024312.5:c.2904A>C MANE Select	NP_077288.2:p.Glu968Asp