Canonical Allele Identifier: CA386296342

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102155463C>T (hg19) ; chr12:g.101761685C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761685C>T , CM000674.2:g.101761685C>T	GRCh38
NC_000012.11:g.102155463C>T , CM000674.1:g.102155463C>T	GRCh37
NC_000012.10:g.100679594C>T	NCBI36
NG_021243.1:g.74183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2794G>A MANE Select	ENSP00000299314.7:p.Ala932Thr
ENST00000299314.11:c.2794G>A	ENSP00000299314.7:p.Ala932Thr
NM_024312.4:c.2794G>A	NP_077288.2:p.Ala932Thr
XM_006719593.2:c.2794G>A	XP_006719656.1:p.Ala932Thr
XM_011538731.1:c.2713G>A	XP_011537033.1:p.Ala905Thr
XM_006719593.3:c.2794G>A	XP_006719656.1:p.Ala932Thr
XM_011538731.2:c.2713G>A	XP_011537033.1:p.Ala905Thr
XM_017019961.1:c.2578G>A	XP_016875450.1:p.Ala860Thr
XM_017019962.2:c.1567G>A	XP_016875451.1:p.Ala523Thr
NM_024312.5:c.2794G>A MANE Select	NP_077288.2:p.Ala932Thr