Canonical Allele Identifier: CA1329111913

Gene: ABCB6 ATG9A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210799C= , CM000664.2:g.219210799C=	GRCh38
NC_000002.11:g.220075521C= , CM000664.1:g.220075521C=	GRCh37
NC_000002.10:g.219783765C=	NCBI36
NG_032110.1:g.13192G=

Transcript Alleles

HGVS	Amino-acid Change
NM_005689.4:c.2168G= (ABCB6) MANE Select	NP_005680.1:p.Arg723=
ENST00000265316.9:c.2168G= (ABCB6) MANE Select	ENSP00000265316.3:p.Arg723=
NM_001349828.1:c.2030G= (ABCB6)	NP_001336757.1:p.Arg677=
NM_001349828.2:c.2030G= (ABCB6)	NP_001336757.1:p.Arg677=
NM_005689.2:c.2168G= (ABCB6)	NP_005680.1:p.Arg723=
NM_005689.3:c.2168G= (ABCB6)	NP_005680.1:p.Arg723=
ENST00000265316.7:c.2168G= (ABCB6)	ENSP00000265316.3:p.Arg723=
ENST00000295750.4:c.1711G= (ABCB6)
ENST00000295750.5:c.2030G= (ABCB6)	ENSP00000295750.5:p.Arg677=
ENST00000443805.1:c.156G= (ABCB6)
ENST00000446716.5:c.4718G= (ATG9A)
ENST00000485773.5:n.200G= (ABCB6)
ENST00000487380.5:n.241G= (ABCB6)
ENST00000492543.1:n.718G= (ABCB6)
ENST00000497882.5:n.2481G= (ABCB6)