Canonical Allele Identifier: CA1329111501

Gene: ABCB6 ATG9A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210036G= , CM000664.2:g.219210036G=	GRCh38
NC_000002.11:g.220074758G= , CM000664.1:g.220074758G=	GRCh37
NC_000002.10:g.219783002G=	NCBI36
NG_032110.1:g.13955C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2431C= (ABCB6) MANE Select	ENSP00000265316.3:p.Leu811=
ENST00000295750.5:c.2293C= (ABCB6)	ENSP00000295750.5:p.Leu765=
ENST00000265316.7:c.2431C= (ABCB6)	ENSP00000265316.3:p.Leu811=
ENST00000295750.4:c.1974C= (ABCB6)
ENST00000443805.1:c.419C= (ABCB6)
ENST00000446716.5:c.4981C= (ATG9A)
ENST00000485773.5:n.698C= (ABCB6)
ENST00000487380.5:n.504C= (ABCB6)
ENST00000497882.5:n.2744C= (ABCB6)
NM_005689.2:c.2431C= (ABCB6)	NP_005680.1:p.Leu811=
NM_001349828.1:c.2293C= (ABCB6)	NP_001336757.1:p.Leu765=
NM_005689.3:c.2431C= (ABCB6)	NP_005680.1:p.Leu811=
NM_005689.4:c.2431C= (ABCB6) MANE Select	NP_005680.1:p.Leu811=
NM_001349828.2:c.2293C= (ABCB6)	NP_001336757.1:p.Leu765=