Canonical Allele Identifier: CA144713

Linked Data

ClinVar Variation Id: 64648
ClinVar RCV Id: RCV000054818
dbSNP Id: rs397514758

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219213310C>T , CM000664.2:g.219213310C>T GRCh38
NC_000002.11:g.220078032C>T , CM000664.1:g.220078032C>T GRCh37
NC_000002.10:g.219786276C>T NCBI36
NG_032110.1:g.10681G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265316.9:c.1736G>A (ABCB6) MANE Select ENSP00000265316.3:p.Gly579Glu
ENST00000295750.5:c.1598G>A (ABCB6) ENSP00000295750.5:p.Gly533Glu
ENST00000265316.7:c.1736G>A (ABCB6) ENSP00000265316.3:p.Gly579Glu
ENST00000295750.4:c.1279G>A (ABCB6)
ENST00000446716.5:c.4461G>A (ATG9A)
ENST00000448398.5:c.812G>A (ABCB6)
ENST00000492543.1:n.111G>A (ABCB6)
ENST00000497882.5:n.2049G>A (ABCB6)
NM_005689.2:c.1736G>A (ABCB6) NP_005680.1:p.Gly579Glu
NM_001349828.1:c.1598G>A (ABCB6) NP_001336757.1:p.Gly533Glu
NM_005689.3:c.1736G>A (ABCB6) NP_005680.1:p.Gly579Glu
NM_005689.4:c.1736G>A (ABCB6) MANE Select NP_005680.1:p.Gly579Glu
NM_001349828.2:c.1598G>A (ABCB6) NP_001336757.1:p.Gly533Glu