Canonical Allele Identifier: CA2620445515

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101785968-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785968T>G , CM000674.2:g.101785968T>G	GRCh38
NC_000012.11:g.102179746T>G , CM000674.1:g.102179746T>G	GRCh37
NC_000012.10:g.100703877T>G	NCBI36
NG_021243.1:g.49900A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.571+44A>C MANE Select	ENSP00000299314.7:n.571+44A>C
ENST00000299314.11:c.571+44A>C	ENSP00000299314.7:n.571+44A>C
ENST00000549940.5:c.571+44A>C	ENSP00000449150.1:n.571+44A>C
ENST00000550352.1:n.409A>C
ENST00000552681.1:c.205+44A>C	ENSP00000449217.1:n.205+44A>C
NM_024312.4:c.571+44A>C	NP_077288.2:n.571+44A>C
XM_006719593.2:c.571+44A>C	XP_006719656.1:n.571+44A>C
XM_011538731.1:c.490+44A>C	XP_011537033.1:n.490+44A>C
XM_006719593.3:c.571+44A>C	XP_006719656.1:n.571+44A>C
XM_011538731.2:c.490+44A>C	XP_011537033.1:n.490+44A>C
XM_017019961.1:c.355+44A>C	XP_016875450.1:n.355+44A>C
XM_017019962.2:c.-780+44A>C	XP_016875451.1:n.-780+44A>C
NM_024312.5:c.571+44A>C MANE Select	NP_077288.2:n.571+44A>C