Canonical Allele Identifier: CA65998358

Gene: ABCB6 ATG9A

Linked Data

• dbSNP Id: rs761872534
• gnomAD v4: 2-219210634-T-C
• MyVariant Identifiers: chr2:g.220075356T>C (hg19) ; chr2:g.219210634T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219210634T>C , CM000664.2:g.219210634T>C	GRCh38
NC_000002.11:g.220075356T>C , CM000664.1:g.220075356T>C	GRCh37
NC_000002.10:g.219783600T>C	NCBI36
NG_032110.1:g.13357A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265316.9:c.2256+77A>G (ABCB6) MANE Select	ENSP00000265316.3:n.2256+77A>G
ENST00000295750.5:c.2118+77A>G (ABCB6)	ENSP00000295750.5:n.2118+77A>G
ENST00000265316.7:c.2256+77A>G (ABCB6)	ENSP00000265316.3:n.2256+77A>G
ENST00000295750.4:c.1799+77A>G (ABCB6)
ENST00000443805.1:c.244+77A>G (ABCB6)
ENST00000446716.5:c.4806+77A>G (ATG9A)
ENST00000485773.5:n.365A>G (ABCB6)
ENST00000487380.5:n.329+77A>G (ABCB6)
ENST00000497882.5:n.2569+77A>G (ABCB6)
NM_005689.2:c.2256+77A>G (ABCB6)	NP_005680.1:n.2256+77A>G
NM_001349828.1:c.2118+77A>G (ABCB6)	NP_001336757.1:n.2118+77A>G
NM_005689.3:c.2256+77A>G (ABCB6)	NP_005680.1:n.2256+77A>G
NM_005689.4:c.2256+77A>G (ABCB6) MANE Select	NP_005680.1:n.2256+77A>G
NM_001349828.2:c.2118+77A>G (ABCB6)	NP_001336757.1:n.2118+77A>G