Canonical Allele Identifier: CA386296354

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155468G>C (hg19) ; chr12:g.101761690G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761690G>C , CM000674.2:g.101761690G>C	GRCh38
NC_000012.11:g.102155468G>C , CM000674.1:g.102155468G>C	GRCh37
NC_000012.10:g.100679599G>C	NCBI36
NG_021243.1:g.74178C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2789C>G MANE Select	ENSP00000299314.7:p.Thr930Arg
ENST00000299314.11:c.2789C>G	ENSP00000299314.7:p.Thr930Arg
NM_024312.4:c.2789C>G	NP_077288.2:p.Thr930Arg
XM_006719593.2:c.2789C>G	XP_006719656.1:p.Thr930Arg
XM_011538731.1:c.2708C>G	XP_011537033.1:p.Thr903Arg
XM_006719593.3:c.2789C>G	XP_006719656.1:p.Thr930Arg
XM_011538731.2:c.2708C>G	XP_011537033.1:p.Thr903Arg
XM_017019961.1:c.2573C>G	XP_016875450.1:p.Thr858Arg
XM_017019962.2:c.1562C>G	XP_016875451.1:p.Thr521Arg
NM_024312.5:c.2789C>G MANE Select	NP_077288.2:p.Thr930Arg