Canonical Allele Identifier: CA425871909
Community Standard Title: NM_022436.3(ABCG5):c.411C>T (p.Thr137=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43831859G>A , CM000664.2:g.43831859G>A GRCh38
NC_000002.11:g.44058998G>A , CM000664.1:g.44058998G>A GRCh37
NC_000002.10:g.43912502G>A NCBI36
NG_008883.1:g.11961C>T
NG_008884.2:g.4918G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.411C>T (ABCG5) MANE Select NP_071881.1:p.Thr137=
ENST00000405322.8:c.411C>T (ABCG5) MANE Select ENSP00000384513.2:p.Thr137=
NM_022436.2:c.411C>T (ABCG5) NP_071881.1:p.Thr137=
ENST00000260645.5:c.411C>T (ABCG5) ENSP00000260645.1:p.Thr137=
ENST00000405322.5:c.168C>T (ABCG5) ENSP00000384513.1:p.Thr56=
ENST00000409962.1:c.168C>T (ABCG5) ENSP00000386501.1:p.Thr56=
ENST00000486512.5:c.168C>T (ABCG5) ENSP00000430935.1:p.Thr56=
ENST00000644754.1:n.1065C>T (ABCG5)
XM_005264480.2:c.411C>T (ABCG5) XP_005264537.1:p.Thr137=
XM_005264480.4:c.411C>T (ABCG5) XP_005264537.1:p.Thr137=
XM_006712073.2:c.411C>T (ABCG5) XP_006712136.1:p.Thr137=
XM_006712073.3:c.411C>T (ABCG5) XP_006712136.1:p.Thr137=
XM_006712074.2:c.411C>T (ABCG5) XP_006712137.1:p.Thr137=
XM_006712074.3:c.411C>T (ABCG5) XP_006712137.1:p.Thr137=
XM_011533024.1:c.411C>T (ABCG5) XP_011531326.1:p.Thr137=
XM_011533024.2:c.411C>T (ABCG5) XP_011531326.1:p.Thr137=
XM_011533025.1:c.168C>T (ABCG5) XP_011531327.1:p.Thr56=
XM_011533025.3:c.168C>T (ABCG5) XP_011531327.1:p.Thr56=
XM_011533026.1:c.411C>T (ABCG5) XP_011531328.1:p.Thr137=
XM_011533026.2:c.411C>T (ABCG5) XP_011531328.1:p.Thr137=
XM_011533027.1:c.-12-3744C>T (ABCG5) XP_011531329.1:n.-12-3744C>T
XM_011533027.3:c.-12-3744C>T (ABCG5) XP_011531329.1:n.-12-3744C>T
XM_011533031.1:c.-154+1063G>A (ABCG8) XP_011531333.1:n.-154+1063G>A