Canonical Allele Identifier: CA386301506

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102161764G>T (hg19) ; chr12:g.101767986G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101767986G>T , CM000674.2:g.101767986G>T	GRCh38
NC_000012.11:g.102161764G>T , CM000674.1:g.102161764G>T	GRCh37
NC_000012.10:g.100685895G>T	NCBI36
NG_021243.1:g.67882C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1408+51C>A MANE Select	ENSP00000299314.7:n.1408+51C>A
ENST00000299314.11:c.1408+51C>A	ENSP00000299314.7:n.1408+51C>A
ENST00000549940.5:c.1459C>A	ENSP00000449150.1:p.Leu487Ile
ENST00000552009.1:n.67+51C>A
NM_024312.4:c.1408+51C>A	NP_077288.2:n.1408+51C>A
XM_006719593.2:c.1408+51C>A	XP_006719656.1:n.1408+51C>A
XM_011538731.1:c.1327+51C>A	XP_011537033.1:n.1327+51C>A
XM_006719593.3:c.1408+51C>A	XP_006719656.1:n.1408+51C>A
XM_011538731.2:c.1327+51C>A	XP_011537033.1:n.1327+51C>A
XM_017019961.1:c.1192+51C>A	XP_016875450.1:n.1192+51C>A
XM_017019962.2:c.181+51C>A	XP_016875451.1:n.181+51C>A
NM_024312.5:c.1408+51C>A MANE Select	NP_077288.2:n.1408+51C>A