Canonical Allele Identifier: CA386297461

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764235C>T , CM000674.2:g.101764235C>T	GRCh38
NC_000012.11:g.102158013C>T , CM000674.1:g.102158013C>T	GRCh37
NC_000012.10:g.100682144C>T	NCBI36
NG_021243.1:g.71633G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.2682G>A MANE Select	NP_077288.2:p.Trp894Ter
ENST00000299314.12:c.2682G>A MANE Select	ENSP00000299314.7:p.Trp894Ter
NM_024312.4:c.2682G>A	NP_077288.2:p.Trp894Ter
ENST00000299314.11:c.2682G>A	ENSP00000299314.7:p.Trp894Ter
XM_006719593.2:c.2682G>A	XP_006719656.1:p.Trp894Ter
XM_006719593.3:c.2682G>A	XP_006719656.1:p.Trp894Ter
XM_011538731.1:c.2601G>A	XP_011537033.1:p.Trp867Ter
XM_011538731.2:c.2601G>A	XP_011537033.1:p.Trp867Ter
XM_017019961.1:c.2466G>A	XP_016875450.1:p.Trp822Ter
XM_017019962.2:c.1455G>A	XP_016875451.1:p.Trp485Ter