Canonical Allele Identifier: CA1329113169

Gene: ABCB6 ATG9A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219212413G= , CM000664.2:g.219212413G=	GRCh38
NC_000002.11:g.220077135G= , CM000664.1:g.220077135G=	GRCh37
NC_000002.10:g.219785379G=	NCBI36
NG_032110.1:g.11578C=

Transcript Alleles

HGVS	Amino-acid Change
NM_005689.4:c.1942C= (ABCB6) MANE Select	NP_005680.1:p.Arg648=
ENST00000265316.9:c.1942C= (ABCB6) MANE Select	ENSP00000265316.3:p.Arg648=
NM_001349828.1:c.1804C= (ABCB6)	NP_001336757.1:p.Arg602=
NM_001349828.2:c.1804C= (ABCB6)	NP_001336757.1:p.Arg602=
NM_005689.2:c.1942C= (ABCB6)	NP_005680.1:p.Arg648=
NM_005689.3:c.1942C= (ABCB6)	NP_005680.1:p.Arg648=
ENST00000265316.7:c.1942C= (ABCB6)	ENSP00000265316.3:p.Arg648=
ENST00000295750.4:c.1485C= (ABCB6)
ENST00000295750.5:c.1804C= (ABCB6)	ENSP00000295750.5:p.Arg602=
ENST00000446716.5:c.4667C= (ATG9A)
ENST00000492543.1:n.492C= (ABCB6)
ENST00000497882.5:n.2255C= (ABCB6)