Canonical Allele Identifier: CA431283669

Gene: ABCB6 ATG9A

Linked Data

• MyVariant Identifiers: chr2:g.220074768T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210046T>A , CM000664.2:g.219210046T>A	GRCh38
NC_000002.11:g.220074768T>A , CM000664.1:g.220074768T>A	GRCh37
NC_000002.10:g.219783012T>A	NCBI36
NG_032110.1:g.13945A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2421A>T (ABCB6) MANE Select	ENSP00000265316.3:p.Arg807=
ENST00000295750.5:c.2283A>T (ABCB6)	ENSP00000295750.5:p.Arg761=
ENST00000265316.7:c.2421A>T (ABCB6)	ENSP00000265316.3:p.Arg807=
ENST00000295750.4:c.1964A>T (ABCB6)
ENST00000443805.1:c.409A>T (ABCB6)
ENST00000446716.5:c.4971A>T (ATG9A)
ENST00000485773.5:n.688A>T (ABCB6)
ENST00000487380.5:n.494A>T (ABCB6)
ENST00000497882.5:n.2734A>T (ABCB6)
NM_005689.2:c.2421A>T (ABCB6)	NP_005680.1:p.Arg807=
NM_001349828.1:c.2283A>T (ABCB6)	NP_001336757.1:p.Arg761=
NM_005689.3:c.2421A>T (ABCB6)	NP_005680.1:p.Arg807=
NM_005689.4:c.2421A>T (ABCB6) MANE Select	NP_005680.1:p.Arg807=
NM_001349828.2:c.2283A>T (ABCB6)	NP_001336757.1:p.Arg761=