Canonical Allele Identifier: CA129261
Gene: ABCB6 HGNC NCBI
ATG9A HGNC NCBI

Linked Data

ClinVar Variation Id: 30482
ClinVar RCV Id: RCV000023439
dbSNP Id: rs387906910
MyVariant Identifiers: chr2:g.220074758G>C (hg19) chr2:g.219210036G>C (hg38)
PubMed: PMID:19504436 PMID:22226084
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219210036G>C , CM000664.2:g.219210036G>C GRCh38
NC_000002.11:g.220074758G>C , CM000664.1:g.220074758G>C GRCh37
NC_000002.10:g.219783002G>C NCBI36
NG_032110.1:g.13955C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265316.9:c.2431C>G (ABCB6) MANE Select ENSP00000265316.3:p.Leu811Val
ENST00000295750.5:c.2293C>G (ABCB6) ENSP00000295750.5:p.Leu765Val
ENST00000265316.7:c.2431C>G (ABCB6) ENSP00000265316.3:p.Leu811Val
ENST00000295750.4:c.1974C>G (ABCB6)
ENST00000443805.1:c.419C>G (ABCB6)
ENST00000446716.5:c.4981C>G (ATG9A)
ENST00000485773.5:n.698C>G (ABCB6)
ENST00000487380.5:n.504C>G (ABCB6)
ENST00000497882.5:n.2744C>G (ABCB6)
NM_005689.2:c.2431C>G (ABCB6) NP_005680.1:p.Leu811Val
NM_001349828.1:c.2293C>G (ABCB6) NP_001336757.1:p.Leu765Val
NM_005689.3:c.2431C>G (ABCB6) NP_005680.1:p.Leu811Val
NM_005689.4:c.2431C>G (ABCB6) MANE Select NP_005680.1:p.Leu811Val
NM_001349828.2:c.2293C>G (ABCB6) NP_001336757.1:p.Leu765Val
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