Canonical Allele Identifier: CA343417

Gene: GNPTAB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101771015dup , CM000674.2:g.101771015dup	GRCh38
NC_000012.11:g.102164793dup , CM000674.1:g.102164793dup	GRCh37
NC_000012.10:g.100688924dup	NCBI36
NG_021243.1:g.64853dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.914dup MANE Select	ENSP00000299314.7:p.Asp305GlufsTer9
ENST00000299314.11:c.914dup	ENSP00000299314.7:p.Asp305GlufsTer9
ENST00000549940.5:c.914dup	ENSP00000449150.1:p.Asp305GlufsTer9
NM_024312.4:c.914dup	NP_077288.2:p.Asp305GlufsTer9
XM_006719593.2:c.914dup	XP_006719656.1:p.Asp305GlufsTer9
XM_011538731.1:c.833dup	XP_011537033.1:p.Asp278GlufsTer9
XM_006719593.3:c.914dup	XP_006719656.1:p.Asp305GlufsTer9
XM_011538731.2:c.833dup	XP_011537033.1:p.Asp278GlufsTer9
XM_017019961.1:c.698dup	XP_016875450.1:p.Asp233GlufsTer9
XM_017019962.2:c.-437dup	XP_016875451.1:n.-437dup
NM_024312.5:c.914dup MANE Select	NP_077288.2:p.Asp305GlufsTer9