Canonical Allele Identifier: CA393551704

Gene: ACSBG1

Linked Data

• ClinVar Variation Id: 2490040
• ClinVar RCV Id: RCV004273687
• MyVariant Identifiers: chr15:g.78471168C>T (hg19) ; chr15:g.78178826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78178826C>T , CM000677.2:g.78178826C>T	GRCh38
NC_000015.9:g.78471168C>T , CM000677.1:g.78471168C>T	GRCh37
NC_000015.8:g.76258223C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258873.9:c.1490G>A MANE Select	ENSP00000258873.4:p.Gly497Asp
ENST00000258873.8:c.1490G>A	ENSP00000258873.4:p.Gly497Asp
ENST00000558301.5:n.566G>A
ENST00000560124.5:c.*802G>A	ENSP00000453605.1:n.*802G>A
ENST00000560817.5:c.764G>A	ENSP00000453451.1:p.Gly255Asp
NM_001199377.1:c.1478G>A	NP_001186306.1:p.Gly493Asp
NM_015162.4:c.1490G>A	NP_055977.3:p.Gly497Asp
XM_011521389.1:c.1514G>A	XP_011519691.1:p.Gly505Asp
XM_011521390.1:c.1424G>A	XP_011519692.1:p.Gly475Asp
XM_011521391.1:c.1277G>A	XP_011519693.1:p.Gly426Asp
XM_011521390.3:c.1424G>A	XP_011519692.1:p.Gly475Asp
XM_011521391.2:c.1277G>A	XP_011519693.2:p.Gly426Asp
XM_017022025.2:c.1490G>A	XP_016877514.1:p.Gly497Asp
XM_017022026.1:c.1514G>A	XP_016877515.1:p.Gly505Asp
NM_015162.5:c.1490G>A MANE Select	NP_055977.3:p.Gly497Asp
NM_001199377.2:c.1478G>A	NP_001186306.1:p.Gly493Asp