Canonical Allele Identifier: CA145194

Gene: ABCB6 ATG9A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219217782C>T , CM000664.2:g.219217782C>T	GRCh38
NC_000002.11:g.220082504C>T , CM000664.1:g.220082504C>T	GRCh37
NC_000002.10:g.219790748C>T	NCBI36
NG_032110.1:g.6209G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005689.4:c.575G>A (ABCB6) MANE Select	NP_005680.1:p.Arg192Gln
ENST00000265316.9:c.575G>A (ABCB6) MANE Select	ENSP00000265316.3:p.Arg192Gln
NM_001349828.1:c.549+343G>A (ABCB6)	NP_001336757.1:n.549+343G>A
NM_001349828.2:c.549+343G>A (ABCB6)	NP_001336757.1:n.549+343G>A
NM_005689.2:c.575G>A (ABCB6)	NP_005680.1:p.Arg192Gln
NM_005689.3:c.575G>A (ABCB6)	NP_005680.1:p.Arg192Gln
ENST00000265316.7:c.575G>A (ABCB6)	ENSP00000265316.3:p.Arg192Gln
ENST00000295750.4:c.230+343G>A (ABCB6)
ENST00000295750.5:c.549+343G>A (ABCB6)	ENSP00000295750.5:n.549+343G>A
ENST00000417678.5:c.328G>A (ABCB6)
ENST00000446716.5:c.3114G>A (ATG9A)
ENST00000448398.5:c.352+343G>A (ABCB6)
ENST00000452545.1:c.92G>A (ABCB6)	ENSP00000401811.1:p.Arg31Gln