Canonical Allele Identifier: CA350682766

Gene: ABCB6 ATG9A

Linked Data

• MyVariant Identifiers: chr2:g.220075446A>G (hg19) ; chr2:g.219210724A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210724A>G , CM000664.2:g.219210724A>G	GRCh38
NC_000002.11:g.220075446A>G , CM000664.1:g.220075446A>G	GRCh37
NC_000002.10:g.219783690A>G	NCBI36
NG_032110.1:g.13267T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265316.9:c.2243T>C (ABCB6) MANE Select	ENSP00000265316.3:p.Ile748Thr
ENST00000295750.5:c.2105T>C (ABCB6)	ENSP00000295750.5:p.Ile702Thr
ENST00000265316.7:c.2243T>C (ABCB6)	ENSP00000265316.3:p.Ile748Thr
ENST00000295750.4:c.1786T>C (ABCB6)
ENST00000443805.1:c.231T>C (ABCB6)
ENST00000446716.5:c.4793T>C (ATG9A)
ENST00000485773.5:n.275T>C (ABCB6)
ENST00000487380.5:n.316T>C (ABCB6)
ENST00000492543.1:n.793T>C (ABCB6)
ENST00000497882.5:n.2556T>C (ABCB6)
NM_005689.2:c.2243T>C (ABCB6)	NP_005680.1:p.Ile748Thr
NM_001349828.1:c.2105T>C (ABCB6)	NP_001336757.1:p.Ile702Thr
NM_005689.3:c.2243T>C (ABCB6)	NP_005680.1:p.Ile748Thr
NM_005689.4:c.2243T>C (ABCB6) MANE Select	NP_005680.1:p.Ile748Thr
NM_001349828.2:c.2105T>C (ABCB6)	NP_001336757.1:p.Ile702Thr