Canonical Allele Identifier: CA386304903

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179853C>T (hg19) ; chr12:g.101786075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786075C>T , CM000674.2:g.101786075C>T	GRCh38
NC_000012.11:g.102179853C>T , CM000674.1:g.102179853C>T	GRCh37
NC_000012.10:g.100703984C>T	NCBI36
NG_021243.1:g.49793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.508G>A MANE Select	ENSP00000299314.7:p.Val170Ile
ENST00000299314.11:c.508G>A	ENSP00000299314.7:p.Val170Ile
ENST00000549940.5:c.508G>A	ENSP00000449150.1:p.Val170Ile
ENST00000550352.1:n.302G>A
ENST00000552681.1:c.142G>A	ENSP00000449217.1:p.Val48Ile
NM_024312.4:c.508G>A	NP_077288.2:p.Val170Ile
XM_006719593.2:c.508G>A	XP_006719656.1:p.Val170Ile
XM_011538731.1:c.427G>A	XP_011537033.1:p.Val143Ile
XM_006719593.3:c.508G>A	XP_006719656.1:p.Val170Ile
XM_011538731.2:c.427G>A	XP_011537033.1:p.Val143Ile
XM_017019961.1:c.292G>A	XP_016875450.1:p.Val98Ile
XM_017019962.2:c.-843G>A	XP_016875451.1:n.-843G>A
NM_024312.5:c.508G>A MANE Select	NP_077288.2:p.Val170Ile