Canonical Allele Identifier: CA2573147971

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 1541603
• ClinVar RCV Id: RCV002157465
• dbSNP Id: rs2137124749

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770986C>T , CM000674.2:g.101770986C>T	GRCh38
NC_000012.11:g.102164764C>T , CM000674.1:g.102164764C>T	GRCh37
NC_000012.10:g.100688895C>T	NCBI36
NG_021243.1:g.64882G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.933+10G>A MANE Select	ENSP00000299314.7:n.933+10G>A
ENST00000299314.11:c.933+10G>A	ENSP00000299314.7:n.933+10G>A
ENST00000549940.5:c.933+10G>A	ENSP00000449150.1:n.933+10G>A
NM_024312.4:c.933+10G>A	NP_077288.2:n.933+10G>A
XM_006719593.2:c.933+10G>A	XP_006719656.1:n.933+10G>A
XM_011538731.1:c.852+10G>A	XP_011537033.1:n.852+10G>A
XM_006719593.3:c.933+10G>A	XP_006719656.1:n.933+10G>A
XM_011538731.2:c.852+10G>A	XP_011537033.1:n.852+10G>A
XM_017019961.1:c.717+10G>A	XP_016875450.1:n.717+10G>A
XM_017019962.2:c.-418+10G>A	XP_016875451.1:n.-418+10G>A
NM_024312.5:c.933+10G>A MANE Select	NP_077288.2:n.933+10G>A