Canonical Allele Identifier: CA386301338

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101766232G>A , CM000674.2:g.101766232G>A	GRCh38
NC_000012.11:g.102160010G>A , CM000674.1:g.102160010G>A	GRCh37
NC_000012.10:g.100684141G>A	NCBI36
NG_021243.1:g.69636C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1471C>T MANE Select	NP_077288.2:p.Gln491Ter
ENST00000299314.12:c.1471C>T MANE Select	ENSP00000299314.7:p.Gln491Ter
NM_024312.4:c.1471C>T	NP_077288.2:p.Gln491Ter
ENST00000299314.11:c.1471C>T	ENSP00000299314.7:p.Gln491Ter
ENST00000552009.1:n.130C>T
XM_006719593.2:c.1471C>T	XP_006719656.1:p.Gln491Ter
XM_006719593.3:c.1471C>T	XP_006719656.1:p.Gln491Ter
XM_011538731.1:c.1390C>T	XP_011537033.1:p.Gln464Ter
XM_011538731.2:c.1390C>T	XP_011537033.1:p.Gln464Ter
XM_017019961.1:c.1255C>T	XP_016875450.1:p.Gln419Ter
XM_017019962.2:c.244C>T	XP_016875451.1:p.Gln82Ter