Canonical Allele Identifier: CA386300146

Gene: GNPTAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101765284T>A , CM000674.2:g.101765284T>A	GRCh38
NC_000012.11:g.102159062T>A , CM000674.1:g.102159062T>A	GRCh37
NC_000012.10:g.100683193T>A	NCBI36
NG_021243.1:g.70584A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.1633A>T MANE Select	NP_077288.2:p.Lys545Ter
ENST00000299314.12:c.1633A>T MANE Select	ENSP00000299314.7:p.Lys545Ter
NM_024312.4:c.1633A>T	NP_077288.2:p.Lys545Ter
ENST00000299314.11:c.1633A>T	ENSP00000299314.7:p.Lys545Ter
XM_006719593.2:c.1633A>T	XP_006719656.1:p.Lys545Ter
XM_006719593.3:c.1633A>T	XP_006719656.1:p.Lys545Ter
XM_011538731.1:c.1552A>T	XP_011537033.1:p.Lys518Ter
XM_011538731.2:c.1552A>T	XP_011537033.1:p.Lys518Ter
XM_017019961.1:c.1417A>T	XP_016875450.1:p.Lys473Ter
XM_017019962.2:c.406A>T	XP_016875451.1:p.Lys136Ter