Canonical Allele Identifier: CA343064

Gene: GNPTAB

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764932G>C , CM000674.2:g.101764932G>C	GRCh38
NC_000012.11:g.102158710G>C , CM000674.1:g.102158710G>C	GRCh37
NC_000012.10:g.100682841G>C	NCBI36
NG_021243.1:g.70936C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1985C>G MANE Select	ENSP00000299314.7:p.Ala662Gly
ENST00000299314.11:c.1985C>G	ENSP00000299314.7:p.Ala662Gly
NM_024312.4:c.1985C>G	NP_077288.2:p.Ala662Gly
XM_006719593.2:c.1985C>G	XP_006719656.1:p.Ala662Gly
XM_011538731.1:c.1904C>G	XP_011537033.1:p.Ala635Gly
XM_006719593.3:c.1985C>G	XP_006719656.1:p.Ala662Gly
XM_011538731.2:c.1904C>G	XP_011537033.1:p.Ala635Gly
XM_017019961.1:c.1769C>G	XP_016875450.1:p.Ala590Gly
XM_017019962.2:c.758C>G	XP_016875451.1:p.Ala253Gly
NM_024312.5:c.1985C>G MANE Select	NP_077288.2:p.Ala662Gly