Canonical Allele Identifier: CA2493927689
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43813262G= , CM000664.2:g.43813262G= GRCh38
NC_000002.11:g.44040401G= , CM000664.1:g.44040401G= GRCh37
NC_000002.10:g.43893905G= NCBI36
NG_008883.1:g.30558C=
NG_053008.1:g.44224G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000405322.8:c.1810C= (ABCG5) MANE Select ENSP00000384513.2:p.Gln604=
ENST00000644754.1:n.2194C= (ABCG5)
ENST00000260645.5:c.1810C= (ABCG5) ENSP00000260645.1:p.Gln604=
ENST00000405322.5:c.1297C= (ABCG5) ENSP00000384513.1:p.Gln433=
ENST00000409962.1:c.*684C= (ABCG5) ENSP00000386501.1:n.*684C=
ENST00000486512.5:c.*1079C= (ABCG5) ENSP00000430935.1:n.*1079C=
NM_022436.2:c.1810C= (ABCG5) NP_071881.1:p.Gln604=
XM_005264364.3:c.*15+2738G= (DYNC2LI1) XP_005264421.1:n.*15+2738G=
XM_005264365.3:c.*15+2738G= (DYNC2LI1) XP_005264422.1:n.*15+2738G=
XM_005264480.2:c.*20C= (ABCG5) XP_005264537.1:n.*20C=
XM_006712073.2:c.1762+1215C= (ABCG5) XP_006712136.1:n.1762+1215C=
XM_011533024.1:c.1675C= (ABCG5) XP_011531326.1:p.Gln559=
XM_011533025.1:c.1567C= (ABCG5) XP_011531327.1:p.Gln523=
XM_011533026.1:c.1540C= (ABCG5) XP_011531328.1:p.Gln514=
XM_011533027.1:c.1297C= (ABCG5) XP_011531329.1:p.Gln433=
XM_011533028.1:c.973C= (ABCG5) XP_011531330.1:p.Gln325=
NM_001348912.1:c.*15+2738G= (DYNC2LI1) NP_001335841.1:n.*15+2738G=
NM_001348913.1:c.*15+2738G= (DYNC2LI1) NP_001335842.1:n.*15+2738G=
XM_005264480.4:c.*20C= (ABCG5) XP_005264537.1:n.*20C=
XM_006712073.3:c.1762+1215C= (ABCG5) XP_006712136.1:n.1762+1215C=
XM_011533024.2:c.1675C= (ABCG5) XP_011531326.1:p.Gln559=
XM_011533025.3:c.1567C= (ABCG5) XP_011531327.1:p.Gln523=
XM_011533026.2:c.1540C= (ABCG5) XP_011531328.1:p.Gln514=
XM_011533027.3:c.1297C= (ABCG5) XP_011531329.1:p.Gln433=
XM_011533028.2:c.973C= (ABCG5) XP_011531330.1:p.Gln325=
NM_022436.3:c.1810C= (ABCG5) MANE Select NP_071881.1:p.Gln604=
NM_001348912.2:c.*15+2738G= (DYNC2LI1) NP_001335841.1:n.*15+2738G=
NM_001348913.2:c.*15+2738G= (DYNC2LI1) NP_001335842.1:n.*15+2738G=