Canonical Allele Identifier: CA2499221397

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1131618
• ClinVar RCV Id: RCV001465558
• dbSNP Id: rs2137124353

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770593A>G , CM000674.2:g.101770593A>G	GRCh38
NC_000012.11:g.102164371A>G , CM000674.1:g.102164371A>G	GRCh37
NC_000012.10:g.100688502A>G	NCBI36
NG_021243.1:g.65275T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.934-8T>C MANE Select	ENSP00000299314.7:n.934-8T>C
ENST00000299314.11:c.934-8T>C	ENSP00000299314.7:n.934-8T>C
ENST00000549940.5:c.934-8T>C	ENSP00000449150.1:n.934-8T>C
NM_024312.4:c.934-8T>C	NP_077288.2:n.934-8T>C
XM_006719593.2:c.934-8T>C	XP_006719656.1:n.934-8T>C
XM_011538731.1:c.853-8T>C	XP_011537033.1:n.853-8T>C
XM_006719593.3:c.934-8T>C	XP_006719656.1:n.934-8T>C
XM_011538731.2:c.853-8T>C	XP_011537033.1:n.853-8T>C
XM_017019961.1:c.718-8T>C	XP_016875450.1:n.718-8T>C
XM_017019962.2:c.-302T>C	XP_016875451.1:n.-302T>C
NM_024312.5:c.934-8T>C MANE Select	NP_077288.2:n.934-8T>C