Canonical Allele Identifier: CA431283661

Gene: ABCB6 ATG9A

Linked Data

• gnomAD v4: 2-219210037-A-T
• MyVariant Identifiers: chr2:g.220074759A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210037A>T , CM000664.2:g.219210037A>T	GRCh38
NC_000002.11:g.220074759A>T , CM000664.1:g.220074759A>T	GRCh37
NC_000002.10:g.219783003A>T	NCBI36
NG_032110.1:g.13954T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2430T>A (ABCB6) MANE Select	ENSP00000265316.3:p.Ala810=
ENST00000295750.5:c.2292T>A (ABCB6)	ENSP00000295750.5:p.Ala764=
ENST00000265316.7:c.2430T>A (ABCB6)	ENSP00000265316.3:p.Ala810=
ENST00000295750.4:c.1973T>A (ABCB6)
ENST00000443805.1:c.418T>A (ABCB6)
ENST00000446716.5:c.4980T>A (ATG9A)
ENST00000485773.5:n.697T>A (ABCB6)
ENST00000487380.5:n.503T>A (ABCB6)
ENST00000497882.5:n.2743T>A (ABCB6)
NM_005689.2:c.2430T>A (ABCB6)	NP_005680.1:p.Ala810=
NM_001349828.1:c.2292T>A (ABCB6)	NP_001336757.1:p.Ala764=
NM_005689.3:c.2430T>A (ABCB6)	NP_005680.1:p.Ala810=
NM_005689.4:c.2430T>A (ABCB6) MANE Select	NP_005680.1:p.Ala810=
NM_001349828.2:c.2292T>A (ABCB6)	NP_001336757.1:p.Ala764=