Canonical Allele Identifier: CA2058957918

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1430087723
• gnomAD v4: 12-101770227-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770227G>C , CM000674.2:g.101770227G>C	GRCh38
NC_000012.11:g.102164005G>C , CM000674.1:g.102164005G>C	GRCh37
NC_000012.10:g.100688136G>C	NCBI36
NG_021243.1:g.65641C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1114-36C>G MANE Select	ENSP00000299314.7:n.1114-36C>G
ENST00000299314.11:c.1114-36C>G	ENSP00000299314.7:n.1114-36C>G
ENST00000549940.5:c.1114-36C>G	ENSP00000449150.1:n.1114-36C>G
NM_024312.4:c.1114-36C>G	NP_077288.2:n.1114-36C>G
XM_006719593.2:c.1114-36C>G	XP_006719656.1:n.1114-36C>G
XM_011538731.1:c.1033-36C>G	XP_011537033.1:n.1033-36C>G
XM_006719593.3:c.1114-36C>G	XP_006719656.1:n.1114-36C>G
XM_011538731.2:c.1033-36C>G	XP_011537033.1:n.1033-36C>G
XM_017019961.1:c.898-36C>G	XP_016875450.1:n.898-36C>G
XM_017019962.2:c.-114-36C>G	XP_016875451.1:n.-114-36C>G
NM_024312.5:c.1114-36C>G MANE Select	NP_077288.2:n.1114-36C>G