Canonical Allele Identifier: CA242462688

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 2929023
• ClinVar RCV Id: RCV003781749
• dbSNP Id: rs913305100
• gnomAD v2: 12-102164383-T-C
• gnomAD v3: 12-101770605-T-C
• gnomAD v4: 12-101770605-T-C
• MyVariant Identifiers: chr12:g.102164383T>C (hg19) ; chr12:g.101770605T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770605T>C , CM000674.2:g.101770605T>C	GRCh38
NC_000012.11:g.102164383T>C , CM000674.1:g.102164383T>C	GRCh37
NC_000012.10:g.100688514T>C	NCBI36
NG_021243.1:g.65263A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.934-20A>G MANE Select	ENSP00000299314.7:n.934-20A>G
ENST00000299314.11:c.934-20A>G	ENSP00000299314.7:n.934-20A>G
ENST00000549940.5:c.934-20A>G	ENSP00000449150.1:n.934-20A>G
NM_024312.4:c.934-20A>G	NP_077288.2:n.934-20A>G
XM_006719593.2:c.934-20A>G	XP_006719656.1:n.934-20A>G
XM_011538731.1:c.853-20A>G	XP_011537033.1:n.853-20A>G
XM_006719593.3:c.934-20A>G	XP_006719656.1:n.934-20A>G
XM_011538731.2:c.853-20A>G	XP_011537033.1:n.853-20A>G
XM_017019961.1:c.718-20A>G	XP_016875450.1:n.718-20A>G
XM_017019962.2:c.-314A>G	XP_016875451.1:n.-314A>G
NM_024312.5:c.934-20A>G MANE Select	NP_077288.2:n.934-20A>G