Canonical Allele Identifier: CA2118884

Gene: ABCB6 ATG9A

Linked Data

• dbSNP Id: rs141144142
• ExAC: 2:220074760 G / A
• gnomAD v3: 2-219210038-G-A
• gnomAD v4: 2-219210038-G-A
• MyVariant Identifiers: chr2:g.220074760G>A (hg19) ; chr2:g.219210038G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210038G>A , CM000664.2:g.219210038G>A	GRCh38
NC_000002.11:g.220074760G>A , CM000664.1:g.220074760G>A	GRCh37
NC_000002.10:g.219783004G>A	NCBI36
NG_032110.1:g.13953C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2429C>T (ABCB6) MANE Select	ENSP00000265316.3:p.Ala810Val
ENST00000295750.5:c.2291C>T (ABCB6)	ENSP00000295750.5:p.Ala764Val
ENST00000265316.7:c.2429C>T (ABCB6)	ENSP00000265316.3:p.Ala810Val
ENST00000295750.4:c.1972C>T (ABCB6)
ENST00000443805.1:c.417C>T (ABCB6)
ENST00000446716.5:c.4979C>T (ATG9A)
ENST00000485773.5:n.696C>T (ABCB6)
ENST00000487380.5:n.502C>T (ABCB6)
ENST00000497882.5:n.2742C>T (ABCB6)
NM_005689.2:c.2429C>T (ABCB6)	NP_005680.1:p.Ala810Val
NM_001349828.1:c.2291C>T (ABCB6)	NP_001336757.1:p.Ala764Val
NM_005689.3:c.2429C>T (ABCB6)	NP_005680.1:p.Ala810Val
NM_005689.4:c.2429C>T (ABCB6) MANE Select	NP_005680.1:p.Ala810Val
NM_001349828.2:c.2291C>T (ABCB6)	NP_001336757.1:p.Ala764Val