Canonical Allele Identifier: CA386294622

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153829T>A (hg19) ; chr12:g.101760051T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760051T>A , CM000674.2:g.101760051T>A	GRCh38
NC_000012.11:g.102153829T>A , CM000674.1:g.102153829T>A	GRCh37
NC_000012.10:g.100677960T>A	NCBI36
NG_021243.1:g.75817A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3228A>T MANE Select	ENSP00000299314.7:p.Glu1076Asp
ENST00000299314.11:c.3228A>T	ENSP00000299314.7:p.Glu1076Asp
ENST00000549194.1:n.94A>T
ENST00000550718.1:c.40A>T
NM_024312.4:c.3228A>T	NP_077288.2:p.Glu1076Asp
XM_006719593.2:c.3228A>T	XP_006719656.1:p.Glu1076Asp
XM_011538731.1:c.3147A>T	XP_011537033.1:p.Glu1049Asp
XM_006719593.3:c.3228A>T	XP_006719656.1:p.Glu1076Asp
XM_011538731.2:c.3147A>T	XP_011537033.1:p.Glu1049Asp
XM_017019961.1:c.3012A>T	XP_016875450.1:p.Glu1004Asp
XM_017019962.2:c.2001A>T	XP_016875451.1:p.Glu667Asp
NM_024312.5:c.3228A>T MANE Select	NP_077288.2:p.Glu1076Asp