Canonical Allele Identifier: CA386304897

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102179850C>T (hg19) ; chr12:g.101786072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786072C>T , CM000674.2:g.101786072C>T	GRCh38
NC_000012.11:g.102179850C>T , CM000674.1:g.102179850C>T	GRCh37
NC_000012.10:g.100703981C>T	NCBI36
NG_021243.1:g.49796G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.511G>A MANE Select	ENSP00000299314.7:p.Ala171Thr
ENST00000299314.11:c.511G>A	ENSP00000299314.7:p.Ala171Thr
ENST00000549940.5:c.511G>A	ENSP00000449150.1:p.Ala171Thr
ENST00000550352.1:n.305G>A
ENST00000552681.1:c.145G>A	ENSP00000449217.1:p.Ala49Thr
NM_024312.4:c.511G>A	NP_077288.2:p.Ala171Thr
XM_006719593.2:c.511G>A	XP_006719656.1:p.Ala171Thr
XM_011538731.1:c.430G>A	XP_011537033.1:p.Ala144Thr
XM_006719593.3:c.511G>A	XP_006719656.1:p.Ala171Thr
XM_011538731.2:c.430G>A	XP_011537033.1:p.Ala144Thr
XM_017019961.1:c.295G>A	XP_016875450.1:p.Ala99Thr
XM_017019962.2:c.-840G>A	XP_016875451.1:n.-840G>A
NM_024312.5:c.511G>A MANE Select	NP_077288.2:p.Ala171Thr