Canonical Allele Identifier: CA350682765

Gene: ABCB6 ATG9A

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2243T>G (ABCB6) MANE Select	ENSP00000265316.3:p.Ile748Ser
ENST00000295750.5:c.2105T>G (ABCB6)	ENSP00000295750.5:p.Ile702Ser
ENST00000265316.7:c.2243T>G (ABCB6)	ENSP00000265316.3:p.Ile748Ser
ENST00000295750.4:c.1786T>G (ABCB6)
ENST00000443805.1:c.231T>G (ABCB6)
ENST00000446716.5:c.4793T>G (ATG9A)
ENST00000485773.5:n.275T>G (ABCB6)
ENST00000487380.5:n.316T>G (ABCB6)
ENST00000492543.1:n.793T>G (ABCB6)
ENST00000497882.5:n.2556T>G (ABCB6)
NM_005689.2:c.2243T>G (ABCB6)	NP_005680.1:p.Ile748Ser
NM_001349828.1:c.2105T>G (ABCB6)	NP_001336757.1:p.Ile702Ser
NM_005689.3:c.2243T>G (ABCB6)	NP_005680.1:p.Ile748Ser
NM_005689.4:c.2243T>G (ABCB6) MANE Select	NP_005680.1:p.Ile748Ser
NM_001349828.2:c.2105T>G (ABCB6)	NP_001336757.1:p.Ile702Ser