Canonical Allele Identifier: CA386296080

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1952995125
• gnomAD v4: 12-101761565-T-C
• MyVariant Identifiers: chr12:g.102155343T>C (hg19) ; chr12:g.101761565T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761565T>C , CM000674.2:g.101761565T>C	GRCh38
NC_000012.11:g.102155343T>C , CM000674.1:g.102155343T>C	GRCh37
NC_000012.10:g.100679474T>C	NCBI36
NG_021243.1:g.74303A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2914A>G MANE Select	ENSP00000299314.7:p.Met972Val
ENST00000299314.11:c.2914A>G	ENSP00000299314.7:p.Met972Val
NM_024312.4:c.2914A>G	NP_077288.2:p.Met972Val
XM_006719593.2:c.2914A>G	XP_006719656.1:p.Met972Val
XM_011538731.1:c.2833A>G	XP_011537033.1:p.Met945Val
XM_006719593.3:c.2914A>G	XP_006719656.1:p.Met972Val
XM_011538731.2:c.2833A>G	XP_011537033.1:p.Met945Val
XM_017019961.1:c.2698A>G	XP_016875450.1:p.Met900Val
XM_017019962.2:c.1687A>G	XP_016875451.1:p.Met563Val
NM_024312.5:c.2914A>G MANE Select	NP_077288.2:p.Met972Val