Canonical Allele Identifier: CA242473141

Gene: GNPTAB

Linked Data

• dbSNP Id: rs900988180
• gnomAD v3: 12-101785839-C-T
• gnomAD v4: 12-101785839-C-T
• MyVariant Identifiers: chr12:g.102179617C>T (hg19) ; chr12:g.101785839C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785839C>T , CM000674.2:g.101785839C>T	GRCh38
NC_000012.11:g.102179617C>T , CM000674.1:g.102179617C>T	GRCh37
NC_000012.10:g.100703748C>T	NCBI36
NG_021243.1:g.50029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+173G>A MANE Select	ENSP00000299314.7:n.571+173G>A
ENST00000299314.11:c.571+173G>A	ENSP00000299314.7:n.571+173G>A
ENST00000549940.5:c.571+173G>A	ENSP00000449150.1:n.571+173G>A
ENST00000550352.1:n.538G>A
ENST00000552681.1:c.205+173G>A	ENSP00000449217.1:n.205+173G>A
NM_024312.4:c.571+173G>A	NP_077288.2:n.571+173G>A
XM_006719593.2:c.571+173G>A	XP_006719656.1:n.571+173G>A
XM_011538731.1:c.490+173G>A	XP_011537033.1:n.490+173G>A
XM_006719593.3:c.571+173G>A	XP_006719656.1:n.571+173G>A
XM_011538731.2:c.490+173G>A	XP_011537033.1:n.490+173G>A
XM_017019961.1:c.355+173G>A	XP_016875450.1:n.355+173G>A
XM_017019962.2:c.-780+173G>A	XP_016875451.1:n.-780+173G>A
NM_024312.5:c.571+173G>A MANE Select	NP_077288.2:n.571+173G>A