Canonical Allele Identifier: CA951159234

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1025127220
• gnomAD v3: 12-101785947-C-G
• gnomAD v4: 12-101785947-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785947C>G , CM000674.2:g.101785947C>G	GRCh38
NC_000012.11:g.102179725C>G , CM000674.1:g.102179725C>G	GRCh37
NC_000012.10:g.100703856C>G	NCBI36
NG_021243.1:g.49921G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.571+65G>C MANE Select	ENSP00000299314.7:n.571+65G>C
ENST00000299314.11:c.571+65G>C	ENSP00000299314.7:n.571+65G>C
ENST00000549940.5:c.571+65G>C	ENSP00000449150.1:n.571+65G>C
ENST00000550352.1:n.430G>C
ENST00000552681.1:c.205+65G>C	ENSP00000449217.1:n.205+65G>C
NM_024312.4:c.571+65G>C	NP_077288.2:n.571+65G>C
XM_006719593.2:c.571+65G>C	XP_006719656.1:n.571+65G>C
XM_011538731.1:c.490+65G>C	XP_011537033.1:n.490+65G>C
XM_006719593.3:c.571+65G>C	XP_006719656.1:n.571+65G>C
XM_011538731.2:c.490+65G>C	XP_011537033.1:n.490+65G>C
XM_017019961.1:c.355+65G>C	XP_016875450.1:n.355+65G>C
XM_017019962.2:c.-780+65G>C	XP_016875451.1:n.-780+65G>C
NM_024312.5:c.571+65G>C MANE Select	NP_077288.2:n.571+65G>C