Canonical Allele Identifier: CA1329114430

Gene: ABCB6 ATG9A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219216027C= , CM000664.2:g.219216027C=	GRCh38
NC_000002.11:g.220080749C= , CM000664.1:g.220080749C=	GRCh37
NC_000002.10:g.219788993C=	NCBI36
NG_032110.1:g.7964G=

Transcript Alleles

HGVS	Amino-acid Change
NM_005689.4:c.1124G= (ABCB6) MANE Select	NP_005680.1:p.Arg375=
ENST00000265316.9:c.1124G= (ABCB6) MANE Select	ENSP00000265316.3:p.Arg375=
NM_001349828.1:c.986G= (ABCB6)	NP_001336757.1:p.Arg329=
NM_001349828.2:c.986G= (ABCB6)	NP_001336757.1:p.Arg329=
NM_005689.2:c.1124G= (ABCB6)	NP_005680.1:p.Arg375=
NM_005689.3:c.1124G= (ABCB6)	NP_005680.1:p.Arg375=
ENST00000265316.7:c.1124G= (ABCB6)	ENSP00000265316.3:p.Arg375=
ENST00000295750.4:c.667G= (ABCB6)
ENST00000295750.5:c.986G= (ABCB6)	ENSP00000295750.5:p.Arg329=
ENST00000417678.5:c.542+337G= (ABCB6)
ENST00000446716.5:c.3849G= (ATG9A)
ENST00000448398.5:c.353-1529G= (ABCB6)
ENST00000452545.1:c.460G= (ABCB6)	ENSP00000401811.1:n.460G=
ENST00000492953.5:n.262G= (ABCB6)