Canonical Allele Identifier: CA350684176

Gene: ABCB6 ATG9A

Linked Data

• COSMIC: COSM4934464 ; COSM4934465
• MyVariant Identifiers: chr2:g.220075719C>A (hg19) ; chr2:g.219210997C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210997C>A , CM000664.2:g.219210997C>A	GRCh38
NC_000002.11:g.220075719C>A , CM000664.1:g.220075719C>A	GRCh37
NC_000002.10:g.219783963C>A	NCBI36
NG_032110.1:g.12994G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265316.9:c.2080G>T (ABCB6) MANE Select	ENSP00000265316.3:p.Asp694Tyr
ENST00000295750.5:c.1942G>T (ABCB6)	ENSP00000295750.5:p.Asp648Tyr
ENST00000265316.7:c.2080G>T (ABCB6)	ENSP00000265316.3:p.Asp694Tyr
ENST00000295750.4:c.1623G>T (ABCB6)
ENST00000443805.1:c.42G>T (ABCB6)
ENST00000446716.5:c.4694-174G>T (ATG9A)
ENST00000485773.5:n.112G>T (ABCB6)
ENST00000487380.5:n.43G>T (ABCB6)
ENST00000492543.1:n.630G>T (ABCB6)
ENST00000497882.5:n.2393G>T (ABCB6)
NM_005689.2:c.2080G>T (ABCB6)	NP_005680.1:p.Asp694Tyr
NM_001349828.1:c.1942G>T (ABCB6)	NP_001336757.1:p.Asp648Tyr
NM_005689.3:c.2080G>T (ABCB6)	NP_005680.1:p.Asp694Tyr
NM_005689.4:c.2080G>T (ABCB6) MANE Select	NP_005680.1:p.Asp694Tyr
NM_001349828.2:c.1942G>T (ABCB6)	NP_001336757.1:p.Asp648Tyr