Canonical Allele Identifier: CA386304476

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101780229C>A , CM000674.2:g.101780229C>A	GRCh38
NC_000012.11:g.102174007C>A , CM000674.1:g.102174007C>A	GRCh37
NC_000012.10:g.100698138C>A	NCBI36
NG_021243.1:g.55639G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.694G>T MANE Select	NP_077288.2:p.Gly232Ter
ENST00000299314.12:c.694G>T MANE Select	ENSP00000299314.7:p.Gly232Ter
NM_024312.4:c.694G>T	NP_077288.2:p.Gly232Ter
ENST00000299314.11:c.694G>T	ENSP00000299314.7:p.Gly232Ter
ENST00000549940.5:c.694G>T	ENSP00000449150.1:p.Gly232Ter
ENST00000552681.1:c.328G>T	ENSP00000449217.1:p.Gly110Ter
XM_006719593.2:c.694G>T	XP_006719656.1:p.Gly232Ter
XM_006719593.3:c.694G>T	XP_006719656.1:p.Gly232Ter
XM_011538731.1:c.613G>T	XP_011537033.1:p.Gly205Ter
XM_011538731.2:c.613G>T	XP_011537033.1:p.Gly205Ter
XM_017019961.1:c.478G>T	XP_016875450.1:p.Gly160Ter
XM_017019962.2:c.-657G>T	XP_016875451.1:n.-657G>T