Canonical Allele Identifier: CA2663211903

Gene: ABCB6 ATG9A

Linked Data

• gnomAD v4: 2-219210651-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210651C>G , CM000664.2:g.219210651C>G	GRCh38
NC_000002.11:g.220075373C>G , CM000664.1:g.220075373C>G	GRCh37
NC_000002.10:g.219783617C>G	NCBI36
NG_032110.1:g.13340G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265316.9:c.2256+60G>C (ABCB6) MANE Select	ENSP00000265316.3:n.2256+60G>C
ENST00000295750.5:c.2118+60G>C (ABCB6)	ENSP00000295750.5:n.2118+60G>C
ENST00000265316.7:c.2256+60G>C (ABCB6)	ENSP00000265316.3:n.2256+60G>C
ENST00000295750.4:c.1799+60G>C (ABCB6)
ENST00000443805.1:c.244+60G>C (ABCB6)
ENST00000446716.5:c.4806+60G>C (ATG9A)
ENST00000485773.5:n.348G>C (ABCB6)
ENST00000487380.5:n.329+60G>C (ABCB6)
ENST00000497882.5:n.2569+60G>C (ABCB6)
NM_005689.2:c.2256+60G>C (ABCB6)	NP_005680.1:n.2256+60G>C
NM_001349828.1:c.2118+60G>C (ABCB6)	NP_001336757.1:n.2118+60G>C
NM_005689.3:c.2256+60G>C (ABCB6)	NP_005680.1:n.2256+60G>C
NM_005689.4:c.2256+60G>C (ABCB6) MANE Select	NP_005680.1:n.2256+60G>C
NM_001349828.2:c.2118+60G>C (ABCB6)	NP_001336757.1:n.2118+60G>C