Canonical Allele Identifier: CA951163717

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1869309451
• gnomAD v3: 12-101796642-G-C
• gnomAD v4: 12-101796642-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101796642G>C , CM000674.2:g.101796642G>C	GRCh38
NC_000012.11:g.102190420G>C , CM000674.1:g.102190420G>C	GRCh37
NC_000012.10:g.100714551G>C	NCBI36
NG_021243.1:g.39226C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.203+35C>G MANE Select	ENSP00000299314.7:n.203+35C>G
ENST00000647144.1:n.323+35C>G
ENST00000299314.11:c.203+35C>G	ENSP00000299314.7:n.203+35C>G
ENST00000392919.4:c.203+35C>G	ENSP00000376651.4:n.203+35C>G
ENST00000549165.1:c.*31C>G	ENSP00000450413.1:n.*31C>G
ENST00000549940.5:c.203+35C>G	ENSP00000449150.1:n.203+35C>G
NM_024312.4:c.203+35C>G	NP_077288.2:n.203+35C>G
XM_006719593.2:c.203+35C>G	XP_006719656.1:n.203+35C>G
XM_011538731.1:c.122+35C>G	XP_011537033.1:n.122+35C>G
XM_006719593.3:c.203+35C>G	XP_006719656.1:n.203+35C>G
XM_011538731.2:c.122+35C>G	XP_011537033.1:n.122+35C>G
XM_017019961.1:c.-14+35C>G	XP_016875450.1:n.-14+35C>G
XM_017019962.2:c.-1148+35C>G	XP_016875451.1:n.-1148+35C>G
NM_024312.5:c.203+35C>G MANE Select	NP_077288.2:n.203+35C>G