Canonical Allele Identifier: CA1329114191

Gene: ABCB6 ATG9A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219213310C= , CM000664.2:g.219213310C=	GRCh38
NC_000002.11:g.220078032C= , CM000664.1:g.220078032C=	GRCh37
NC_000002.10:g.219786276C=	NCBI36
NG_032110.1:g.10681G=

Transcript Alleles

HGVS	Amino-acid Change
NM_005689.4:c.1736G= (ABCB6) MANE Select	NP_005680.1:p.Gly579=
ENST00000265316.9:c.1736G= (ABCB6) MANE Select	ENSP00000265316.3:p.Gly579=
NM_001349828.1:c.1598G= (ABCB6)	NP_001336757.1:p.Gly533=
NM_001349828.2:c.1598G= (ABCB6)	NP_001336757.1:p.Gly533=
NM_005689.2:c.1736G= (ABCB6)	NP_005680.1:p.Gly579=
NM_005689.3:c.1736G= (ABCB6)	NP_005680.1:p.Gly579=
ENST00000265316.7:c.1736G= (ABCB6)	ENSP00000265316.3:p.Gly579=
ENST00000295750.4:c.1279G= (ABCB6)
ENST00000295750.5:c.1598G= (ABCB6)	ENSP00000295750.5:p.Gly533=
ENST00000446716.5:c.4461G= (ATG9A)
ENST00000448398.5:c.812G= (ABCB6)
ENST00000492543.1:n.111G= (ABCB6)
ENST00000497882.5:n.2049G= (ABCB6)