Canonical Allele Identifier: CA386292209

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753403G>A , CM000674.2:g.101753403G>A	GRCh38
NC_000012.11:g.102147181G>A , CM000674.1:g.102147181G>A	GRCh37
NC_000012.10:g.100671312G>A	NCBI36
NG_021243.1:g.82465C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3571C>T MANE Select	NP_077288.2:p.Arg1191Cys
ENST00000299314.12:c.3571C>T MANE Select	ENSP00000299314.7:p.Arg1191Cys
NM_024312.4:c.3571C>T	NP_077288.2:p.Arg1191Cys
ENST00000299314.11:c.3571C>T	ENSP00000299314.7:p.Arg1191Cys
ENST00000549738.5:c.469C>T	ENSP00000450161.1:n.469C>T
XM_011538731.1:c.3490C>T	XP_011537033.1:p.Arg1164Cys
XM_011538731.2:c.3490C>T	XP_011537033.1:p.Arg1164Cys
XM_017019961.1:c.3355C>T	XP_016875450.1:p.Arg1119Cys
XM_017019962.2:c.2344C>T	XP_016875451.1:p.Arg782Cys