Canonical Allele Identifier: CA2058964725

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1868612490
• gnomAD v4: 12-101785866-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785866A>G , CM000674.2:g.101785866A>G	GRCh38
NC_000012.11:g.102179644A>G , CM000674.1:g.102179644A>G	GRCh37
NC_000012.10:g.100703775A>G	NCBI36
NG_021243.1:g.50002T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+146T>C MANE Select	ENSP00000299314.7:n.571+146T>C
ENST00000299314.11:c.571+146T>C	ENSP00000299314.7:n.571+146T>C
ENST00000549940.5:c.571+146T>C	ENSP00000449150.1:n.571+146T>C
ENST00000550352.1:n.511T>C
ENST00000552681.1:c.205+146T>C	ENSP00000449217.1:n.205+146T>C
NM_024312.4:c.571+146T>C	NP_077288.2:n.571+146T>C
XM_006719593.2:c.571+146T>C	XP_006719656.1:n.571+146T>C
XM_011538731.1:c.490+146T>C	XP_011537033.1:n.490+146T>C
XM_006719593.3:c.571+146T>C	XP_006719656.1:n.571+146T>C
XM_011538731.2:c.490+146T>C	XP_011537033.1:n.490+146T>C
XM_017019961.1:c.355+146T>C	XP_016875450.1:n.355+146T>C
XM_017019962.2:c.-780+146T>C	XP_016875451.1:n.-780+146T>C
NM_024312.5:c.571+146T>C MANE Select	NP_077288.2:n.571+146T>C