Canonical Allele Identifier: CA386292109

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753372C>T , CM000674.2:g.101753372C>T	GRCh38
NC_000012.11:g.102147150C>T , CM000674.1:g.102147150C>T	GRCh37
NC_000012.10:g.100671281C>T	NCBI36
NG_021243.1:g.82496G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3602G>A MANE Select	NP_077288.2:p.Trp1201Ter
ENST00000299314.12:c.3602G>A MANE Select	ENSP00000299314.7:p.Trp1201Ter
NM_024312.4:c.3602G>A	NP_077288.2:p.Trp1201Ter
ENST00000299314.11:c.3602G>A	ENSP00000299314.7:p.Trp1201Ter
ENST00000549738.5:c.500G>A	ENSP00000450161.1:n.500G>A
XM_011538731.1:c.3521G>A	XP_011537033.1:p.Trp1174Ter
XM_011538731.2:c.3521G>A	XP_011537033.1:p.Trp1174Ter
XM_017019961.1:c.3386G>A	XP_016875450.1:p.Trp1129Ter
XM_017019962.2:c.2375G>A	XP_016875451.1:p.Trp792Ter