Canonical Allele Identifier: CA386299487

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101765035G>A , CM000674.2:g.101765035G>A	GRCh38
NC_000012.11:g.102158813G>A , CM000674.1:g.102158813G>A	GRCh37
NC_000012.10:g.100682944G>A	NCBI36
NG_021243.1:g.70833C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1882C>T MANE Select	NP_077288.2:p.Gln628Ter
ENST00000299314.12:c.1882C>T MANE Select	ENSP00000299314.7:p.Gln628Ter
NM_024312.4:c.1882C>T	NP_077288.2:p.Gln628Ter
ENST00000299314.11:c.1882C>T	ENSP00000299314.7:p.Gln628Ter
XM_006719593.2:c.1882C>T	XP_006719656.1:p.Gln628Ter
XM_006719593.3:c.1882C>T	XP_006719656.1:p.Gln628Ter
XM_011538731.1:c.1801C>T	XP_011537033.1:p.Gln601Ter
XM_011538731.2:c.1801C>T	XP_011537033.1:p.Gln601Ter
XM_017019961.1:c.1666C>T	XP_016875450.1:p.Gln556Ter
XM_017019962.2:c.655C>T	XP_016875451.1:p.Gln219Ter