Canonical Allele Identifier: CA1329114467

Gene: ABCB6 ATG9A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219216084A= , CM000664.2:g.219216084A=	GRCh38
NC_000002.11:g.220080806A= , CM000664.1:g.220080806A=	GRCh37
NC_000002.10:g.219789050A=	NCBI36
NG_032110.1:g.7907T=

Transcript Alleles

HGVS	Amino-acid Change
NM_005689.4:c.1067T= (ABCB6) MANE Select	NP_005680.1:p.Leu356=
ENST00000265316.9:c.1067T= (ABCB6) MANE Select	ENSP00000265316.3:p.Leu356=
NM_001349828.1:c.929T= (ABCB6)	NP_001336757.1:p.Leu310=
NM_001349828.2:c.929T= (ABCB6)	NP_001336757.1:p.Leu310=
NM_005689.2:c.1067T= (ABCB6)	NP_005680.1:p.Leu356=
NM_005689.3:c.1067T= (ABCB6)	NP_005680.1:p.Leu356=
ENST00000265316.7:c.1067T= (ABCB6)	ENSP00000265316.3:p.Leu356=
ENST00000295750.4:c.610T= (ABCB6)
ENST00000295750.5:c.929T= (ABCB6)	ENSP00000295750.5:p.Leu310=
ENST00000417678.5:c.542+280T= (ABCB6)
ENST00000446716.5:c.3792T= (ATG9A)
ENST00000448398.5:c.353-1586T= (ABCB6)
ENST00000452545.1:c.403T= (ABCB6)	ENSP00000401811.1:n.403T=
ENST00000492953.5:n.205T= (ABCB6)