Canonical Allele Identifier: CA343072

Gene: GNPTAB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764201C>T , CM000674.2:g.101764201C>T	GRCh38
NC_000012.11:g.102157979C>T , CM000674.1:g.102157979C>T	GRCh37
NC_000012.10:g.100682110C>T	NCBI36
NG_021243.1:g.71667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2715+1G>A MANE Select	ENSP00000299314.7:n.2715+1G>A
ENST00000299314.11:c.2715+1G>A	ENSP00000299314.7:n.2715+1G>A
NM_024312.4:c.2715+1G>A	NP_077288.2:n.2715+1G>A
XM_006719593.2:c.2715+1G>A	XP_006719656.1:n.2715+1G>A
XM_011538731.1:c.2634+1G>A	XP_011537033.1:n.2634+1G>A
XM_006719593.3:c.2715+1G>A	XP_006719656.1:n.2715+1G>A
XM_011538731.2:c.2634+1G>A	XP_011537033.1:n.2634+1G>A
XM_017019961.1:c.2499+1G>A	XP_016875450.1:n.2499+1G>A
XM_017019962.2:c.1488+1G>A	XP_016875451.1:n.1488+1G>A
NM_024312.5:c.2715+1G>A MANE Select	NP_077288.2:n.2715+1G>A