Canonical Allele Identifier: CA212651

Linked Data

ClinVar Variation Id: 218180
dbSNP Id: rs764893806

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219216028G>A , CM000664.2:g.219216028G>A GRCh38
NC_000002.11:g.220080750G>A , CM000664.1:g.220080750G>A GRCh37
NC_000002.10:g.219788994G>A NCBI36
NG_032110.1:g.7963C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265316.9:c.1123C>T (ABCB6) MANE Select ENSP00000265316.3:p.Arg375Trp
ENST00000295750.5:c.985C>T (ABCB6) ENSP00000295750.5:p.Arg329Trp
ENST00000265316.7:c.1123C>T (ABCB6) ENSP00000265316.3:p.Arg375Trp
ENST00000295750.4:c.666C>T (ABCB6)
ENST00000417678.5:c.542+336C>T (ABCB6)
ENST00000446716.5:c.3848C>T (ATG9A)
ENST00000448398.5:c.353-1530C>T (ABCB6)
ENST00000452545.1:c.459C>T (ABCB6) ENSP00000401811.1:n.459C>T
ENST00000492953.5:n.261C>T (ABCB6)
NM_005689.2:c.1123C>T (ABCB6) NP_005680.1:p.Arg375Trp
NM_001349828.1:c.985C>T (ABCB6) NP_001336757.1:p.Arg329Trp
NM_005689.3:c.1123C>T (ABCB6) NP_005680.1:p.Arg375Trp
NM_005689.4:c.1123C>T (ABCB6) MANE Select NP_005680.1:p.Arg375Trp
NM_001349828.2:c.985C>T (ABCB6) NP_001336757.1:p.Arg329Trp