Canonical Allele Identifier: CA386292125

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753379G>A , CM000674.2:g.101753379G>A	GRCh38
NC_000012.11:g.102147157G>A , CM000674.1:g.102147157G>A	GRCh37
NC_000012.10:g.100671288G>A	NCBI36
NG_021243.1:g.82489C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3595C>T MANE Select	NP_077288.2:p.Gln1199Ter
ENST00000299314.12:c.3595C>T MANE Select	ENSP00000299314.7:p.Gln1199Ter
NM_024312.4:c.3595C>T	NP_077288.2:p.Gln1199Ter
ENST00000299314.11:c.3595C>T	ENSP00000299314.7:p.Gln1199Ter
ENST00000549738.5:c.493C>T	ENSP00000450161.1:n.493C>T
XM_011538731.1:c.3514C>T	XP_011537033.1:p.Gln1172Ter
XM_011538731.2:c.3514C>T	XP_011537033.1:p.Gln1172Ter
XM_017019961.1:c.3379C>T	XP_016875450.1:p.Gln1127Ter
XM_017019962.2:c.2368C>T	XP_016875451.1:p.Gln790Ter