Canonical Allele Identifier: CA2577297954
Gene: ABCB6 HGNC NCBI
ATG9A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219210701C>G , CM000664.2:g.219210701C>G GRCh38
NC_000002.11:g.220075423C>G , CM000664.1:g.220075423C>G GRCh37
NC_000002.10:g.219783667C>G NCBI36
NG_032110.1:g.13290G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265316.9:c.2256+10G>C (ABCB6) MANE Select ENSP00000265316.3:n.2256+10G>C
ENST00000295750.5:c.2118+10G>C (ABCB6) ENSP00000295750.5:n.2118+10G>C
ENST00000265316.7:c.2256+10G>C (ABCB6) ENSP00000265316.3:n.2256+10G>C
ENST00000295750.4:c.1799+10G>C (ABCB6)
ENST00000443805.1:c.244+10G>C (ABCB6)
ENST00000446716.5:c.4806+10G>C (ATG9A)
ENST00000485773.5:n.298G>C (ABCB6)
ENST00000487380.5:n.329+10G>C (ABCB6)
ENST00000497882.5:n.2569+10G>C (ABCB6)
NM_005689.2:c.2256+10G>C (ABCB6) NP_005680.1:n.2256+10G>C
NM_001349828.1:c.2118+10G>C (ABCB6) NP_001336757.1:n.2118+10G>C
NM_005689.3:c.2256+10G>C (ABCB6) NP_005680.1:n.2256+10G>C
NM_005689.4:c.2256+10G>C (ABCB6) MANE Select NP_005680.1:n.2256+10G>C
NM_001349828.2:c.2118+10G>C (ABCB6) NP_001336757.1:n.2118+10G>C
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