Canonical Allele Identifier: CA607154354

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1286048105
• gnomAD v2: 12-102164403-C-T
• gnomAD v4: 12-101770625-C-T
• MyVariant Identifiers: chr12:g.102164403C>T (hg19) ; chr12:g.101770625C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770625C>T , CM000674.2:g.101770625C>T	GRCh38
NC_000012.11:g.102164403C>T , CM000674.1:g.102164403C>T	GRCh37
NC_000012.10:g.100688534C>T	NCBI36
NG_021243.1:g.65243G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.934-40G>A MANE Select	ENSP00000299314.7:n.934-40G>A
ENST00000299314.11:c.934-40G>A	ENSP00000299314.7:n.934-40G>A
ENST00000549940.5:c.934-40G>A	ENSP00000449150.1:n.934-40G>A
NM_024312.4:c.934-40G>A	NP_077288.2:n.934-40G>A
XM_006719593.2:c.934-40G>A	XP_006719656.1:n.934-40G>A
XM_011538731.1:c.853-40G>A	XP_011537033.1:n.853-40G>A
XM_006719593.3:c.934-40G>A	XP_006719656.1:n.934-40G>A
XM_011538731.2:c.853-40G>A	XP_011537033.1:n.853-40G>A
XM_017019961.1:c.718-40G>A	XP_016875450.1:n.718-40G>A
XM_017019962.2:c.-334G>A	XP_016875451.1:n.-334G>A
NM_024312.5:c.934-40G>A MANE Select	NP_077288.2:n.934-40G>A