Canonical Allele Identifier: CA393561125

Gene: ACSBG1

Linked Data

• ClinVar Variation Id: 2293208
• ClinVar RCV Id: RCV004140293
• gnomAD v4: 15-78208055-G-C
• MyVariant Identifiers: chr15:g.78500397G>C (hg19) ; chr15:g.78208055G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78208055G>C , CM000677.2:g.78208055G>C	GRCh38
NC_000015.9:g.78500397G>C , CM000677.1:g.78500397G>C	GRCh37
NC_000015.8:g.76287452G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258873.9:c.179C>G MANE Select	ENSP00000258873.4:p.Ala60Gly
ENST00000258873.8:c.179C>G	ENSP00000258873.4:p.Ala60Gly
ENST00000557935.1:c.*115-13329C>G	ENSP00000453585.1:n.*115-13329C>G
ENST00000558130.1:c.179C>G	ENSP00000453800.1:p.Ala60Gly
ENST00000558793.1:n.573C>G
ENST00000558828.5:n.468C>G
ENST00000559241.5:c.203C>G	ENSP00000453547.1:p.Ala68Gly
ENST00000559707.5:c.132-13329C>G	ENSP00000453447.1:n.132-13329C>G
ENST00000560124.5:c.132-25270C>G	ENSP00000453605.1:n.132-25270C>G
ENST00000560817.5:c.-63-25270C>G	ENSP00000453451.1:n.-63-25270C>G
NM_001199377.1:c.179C>G	NP_001186306.1:p.Ala60Gly
NM_015162.4:c.179C>G	NP_055977.3:p.Ala60Gly
XM_011521389.1:c.203C>G	XP_011519691.1:p.Ala68Gly
XM_011521390.1:c.113C>G	XP_011519692.1:p.Ala38Gly
XM_011521390.3:c.113C>G	XP_011519692.1:p.Ala38Gly
XM_017022025.2:c.179C>G	XP_016877514.1:p.Ala60Gly
XM_017022026.1:c.203C>G	XP_016877515.1:p.Ala68Gly
NM_015162.5:c.179C>G MANE Select	NP_055977.3:p.Ala60Gly
NM_001199377.2:c.179C>G	NP_001186306.1:p.Ala60Gly