Canonical Allele Identifier: CA242472977

Gene: GNPTAB

Linked Data

• dbSNP Id: rs929378037
• gnomAD v4: 12-101785625-A-T
• MyVariant Identifiers: chr12:g.102179403A>T (hg19) ; chr12:g.101785625A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101785625A>T , CM000674.2:g.101785625A>T	GRCh38
NC_000012.11:g.102179403A>T , CM000674.1:g.102179403A>T	GRCh37
NC_000012.10:g.100703534A>T	NCBI36
NG_021243.1:g.50243T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.571+387T>A MANE Select	ENSP00000299314.7:n.571+387T>A
ENST00000299314.11:c.571+387T>A	ENSP00000299314.7:n.571+387T>A
ENST00000549940.5:c.571+387T>A	ENSP00000449150.1:n.571+387T>A
ENST00000550352.1:n.752T>A
ENST00000552681.1:c.205+387T>A	ENSP00000449217.1:n.205+387T>A
NM_024312.4:c.571+387T>A	NP_077288.2:n.571+387T>A
XM_006719593.2:c.571+387T>A	XP_006719656.1:n.571+387T>A
XM_011538731.1:c.490+387T>A	XP_011537033.1:n.490+387T>A
XM_006719593.3:c.571+387T>A	XP_006719656.1:n.571+387T>A
XM_011538731.2:c.490+387T>A	XP_011537033.1:n.490+387T>A
XM_017019961.1:c.355+387T>A	XP_016875450.1:n.355+387T>A
XM_017019962.2:c.-780+387T>A	XP_016875451.1:n.-780+387T>A
NM_024312.5:c.571+387T>A MANE Select	NP_077288.2:n.571+387T>A