Canonical Allele Identifier: CA350643623

Gene: ABCB6 ATG9A

Linked Data

• MyVariant Identifiers: chr2:g.220082888T>G (hg19) ; chr2:g.219218166T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219218166T>G , CM000664.2:g.219218166T>G	GRCh38
NC_000002.11:g.220082888T>G , CM000664.1:g.220082888T>G	GRCh37
NC_000002.10:g.219791132T>G	NCBI36
NG_032110.1:g.5825A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.508A>C (ABCB6) MANE Select	ENSP00000265316.3:p.Ser170Arg
ENST00000295750.5:c.508A>C (ABCB6)	ENSP00000295750.5:p.Ser170Arg
ENST00000265316.7:c.508A>C (ABCB6)	ENSP00000265316.3:p.Ser170Arg
ENST00000295750.4:c.189A>C (ABCB6)
ENST00000417678.5:c.261A>C (ABCB6)
ENST00000446716.5:c.3047A>C (ATG9A)
ENST00000448398.5:c.311A>C (ABCB6)
ENST00000452545.1:c.25A>C (ABCB6)	ENSP00000401811.1:p.Ser9Arg
NM_005689.2:c.508A>C (ABCB6)	NP_005680.1:p.Ser170Arg
NM_001349828.1:c.508A>C (ABCB6)	NP_001336757.1:p.Ser170Arg
NM_005689.3:c.508A>C (ABCB6)	NP_005680.1:p.Ser170Arg
NM_005689.4:c.508A>C (ABCB6) MANE Select	NP_005680.1:p.Ser170Arg
NM_001349828.2:c.508A>C (ABCB6)	NP_001336757.1:p.Ser170Arg