Canonical Allele Identifier: CA386292354

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753433G>A , CM000674.2:g.101753433G>A	GRCh38
NC_000012.11:g.102147211G>A , CM000674.1:g.102147211G>A	GRCh37
NC_000012.10:g.100671342G>A	NCBI36
NG_021243.1:g.82435C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3541C>T MANE Select	NP_077288.2:p.Gln1181Ter
ENST00000299314.12:c.3541C>T MANE Select	ENSP00000299314.7:p.Gln1181Ter
NM_024312.4:c.3541C>T	NP_077288.2:p.Gln1181Ter
ENST00000299314.11:c.3541C>T	ENSP00000299314.7:p.Gln1181Ter
ENST00000549738.5:c.439C>T	ENSP00000450161.1:n.439C>T
XM_011538731.1:c.3460C>T	XP_011537033.1:p.Gln1154Ter
XM_011538731.2:c.3460C>T	XP_011537033.1:p.Gln1154Ter
XM_017019961.1:c.3325C>T	XP_016875450.1:p.Gln1109Ter
XM_017019962.2:c.2314C>T	XP_016875451.1:p.Gln772Ter