Canonical Allele Identifier: CA2620445332

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101785851-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785851T>C , CM000674.2:g.101785851T>C	GRCh38
NC_000012.11:g.102179629T>C , CM000674.1:g.102179629T>C	GRCh37
NC_000012.10:g.100703760T>C	NCBI36
NG_021243.1:g.50017A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+161A>G MANE Select	ENSP00000299314.7:n.571+161A>G
ENST00000299314.11:c.571+161A>G	ENSP00000299314.7:n.571+161A>G
ENST00000549940.5:c.571+161A>G	ENSP00000449150.1:n.571+161A>G
ENST00000550352.1:n.526A>G
ENST00000552681.1:c.205+161A>G	ENSP00000449217.1:n.205+161A>G
NM_024312.4:c.571+161A>G	NP_077288.2:n.571+161A>G
XM_006719593.2:c.571+161A>G	XP_006719656.1:n.571+161A>G
XM_011538731.1:c.490+161A>G	XP_011537033.1:n.490+161A>G
XM_006719593.3:c.571+161A>G	XP_006719656.1:n.571+161A>G
XM_011538731.2:c.490+161A>G	XP_011537033.1:n.490+161A>G
XM_017019961.1:c.355+161A>G	XP_016875450.1:n.355+161A>G
XM_017019962.2:c.-780+161A>G	XP_016875451.1:n.-780+161A>G
NM_024312.5:c.571+161A>G MANE Select	NP_077288.2:n.571+161A>G