Canonical Allele Identifier: CA386298205

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764462C>A , CM000674.2:g.101764462C>A	GRCh38
NC_000012.11:g.102158240C>A , CM000674.1:g.102158240C>A	GRCh37
NC_000012.10:g.100682371C>A	NCBI36
NG_021243.1:g.71406G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.2455G>T MANE Select	NP_077288.2:p.Glu819Ter
ENST00000299314.12:c.2455G>T MANE Select	ENSP00000299314.7:p.Glu819Ter
NM_024312.4:c.2455G>T	NP_077288.2:p.Glu819Ter
ENST00000299314.11:c.2455G>T	ENSP00000299314.7:p.Glu819Ter
XM_006719593.2:c.2455G>T	XP_006719656.1:p.Glu819Ter
XM_006719593.3:c.2455G>T	XP_006719656.1:p.Glu819Ter
XM_011538731.1:c.2374G>T	XP_011537033.1:p.Glu792Ter
XM_011538731.2:c.2374G>T	XP_011537033.1:p.Glu792Ter
XM_017019961.1:c.2239G>T	XP_016875450.1:p.Glu747Ter
XM_017019962.2:c.1228G>T	XP_016875451.1:p.Glu410Ter