Canonical Allele Identifier: CA1329114432

Gene: ABCB6 ATG9A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219216028G= , CM000664.2:g.219216028G=	GRCh38
NC_000002.11:g.220080750G= , CM000664.1:g.220080750G=	GRCh37
NC_000002.10:g.219788994G=	NCBI36
NG_032110.1:g.7963C=

Transcript Alleles

HGVS	Amino-acid Change
NM_005689.4:c.1123C= (ABCB6) MANE Select	NP_005680.1:p.Arg375=
ENST00000265316.9:c.1123C= (ABCB6) MANE Select	ENSP00000265316.3:p.Arg375=
NM_001349828.1:c.985C= (ABCB6)	NP_001336757.1:p.Arg329=
NM_001349828.2:c.985C= (ABCB6)	NP_001336757.1:p.Arg329=
NM_005689.2:c.1123C= (ABCB6)	NP_005680.1:p.Arg375=
NM_005689.3:c.1123C= (ABCB6)	NP_005680.1:p.Arg375=
ENST00000265316.7:c.1123C= (ABCB6)	ENSP00000265316.3:p.Arg375=
ENST00000295750.4:c.666C= (ABCB6)
ENST00000295750.5:c.985C= (ABCB6)	ENSP00000295750.5:p.Arg329=
ENST00000417678.5:c.542+336C= (ABCB6)
ENST00000446716.5:c.3848C= (ATG9A)
ENST00000448398.5:c.353-1530C= (ABCB6)
ENST00000452545.1:c.459C= (ABCB6)	ENSP00000401811.1:n.459C=
ENST00000492953.5:n.261C= (ABCB6)