Canonical Allele Identifier: CA204405
Gene: ABCB6 HGNC NCBI
ATG9A HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.219213495G>T
GRCh37 chr2:g.220078217G>T
Revel Score:
ENST00000265316 (MANE Select) 0.947
ENST00000439002 0.947
ClinVar RCV:
RCV000190414
ClinVar Variation:
208249
dbSNP:
796065353
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219213495G>T , CM000664.2:g.219213495G>T GRCh38
NC_000002.11:g.220078217G>T , CM000664.1:g.220078217G>T GRCh37
NC_000002.10:g.219786461G>T NCBI36
NG_032110.1:g.10496C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265316.9:c.1663C>A (ABCB6) MANE Select ENSP00000265316.3:p.Gln555Lys
ENST00000295750.5:c.1525C>A (ABCB6) ENSP00000295750.5:p.Gln509Lys
ENST00000265316.7:c.1663C>A (ABCB6) ENSP00000265316.3:p.Gln555Lys
ENST00000295750.4:c.1206C>A (ABCB6)
ENST00000446716.5:c.4388C>A (ATG9A)
ENST00000448398.5:c.739C>A (ABCB6)
ENST00000497882.5:n.1976C>A (ABCB6)
NM_005689.2:c.1663C>A (ABCB6) NP_005680.1:p.Gln555Lys
NM_001349828.1:c.1525C>A (ABCB6) NP_001336757.1:p.Gln509Lys
NM_005689.3:c.1663C>A (ABCB6) NP_005680.1:p.Gln555Lys
NM_005689.4:c.1663C>A (ABCB6) MANE Select NP_005680.1:p.Gln555Lys
NM_001349828.2:c.1525C>A (ABCB6) NP_001336757.1:p.Gln509Lys
Search 100 bp 5'
Search 100 bp 3'