Canonical Allele Identifier: CA2493940694
Community Standard Title: NM_022436.3(ABCG5):c.46C= (p.Gln16=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43838634G= , CM000664.2:g.43838634G= GRCh38
NC_000002.11:g.44065773G= , CM000664.1:g.44065773G= GRCh37
NC_000002.10:g.43919277G= NCBI36
NG_008883.1:g.5186C=
NG_008884.1:g.4671G=
NG_008884.2:g.11693G=

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.46C= (ABCG5) MANE Select NP_071881.1:p.Gln16=
ENST00000405322.8:c.46C= (ABCG5) MANE Select ENSP00000384513.2:p.Gln16=
NM_022436.2:c.46C= (ABCG5) NP_071881.1:p.Gln16=
ENST00000260645.5:c.46C= (ABCG5) ENSP00000260645.1:p.Gln16=
ENST00000405322.5:c.-779C= (ABCG5) ENSP00000384513.1:n.-779C=
ENST00000409962.1:c.-779C= (ABCG5) ENSP00000386501.1:n.-779C=
ENST00000486512.5:c.-779C= (ABCG5) ENSP00000430935.1:n.-779C=
ENST00000643284.1:n.521-5873G= (ABCG8)
ENST00000644611.1:c.76-5873G= (ABCG8) ENSP00000495423.1:n.76-5873G=
ENST00000644754.1:n.119C= (ABCG5)
XM_005264480.2:c.46C= (ABCG5) XP_005264537.1:p.Gln16=
XM_005264480.4:c.46C= (ABCG5) XP_005264537.1:p.Gln16=
XM_006712073.2:c.46C= (ABCG5) XP_006712136.1:p.Gln16=
XM_006712073.3:c.46C= (ABCG5) XP_006712136.1:p.Gln16=
XM_006712074.2:c.46C= (ABCG5) XP_006712137.1:p.Gln16=
XM_006712074.3:c.46C= (ABCG5) XP_006712137.1:p.Gln16=
XM_011533024.1:c.46C= (ABCG5) XP_011531326.1:p.Gln16=
XM_011533024.2:c.46C= (ABCG5) XP_011531326.1:p.Gln16=
XM_011533025.1:c.-698C= (ABCG5) XP_011531327.1:n.-698C=
XM_011533025.3:c.-698C= (ABCG5) XP_011531327.1:n.-698C=
XM_011533026.1:c.46C= (ABCG5) XP_011531328.1:p.Gln16=
XM_011533026.2:c.46C= (ABCG5) XP_011531328.1:p.Gln16=
XM_011533027.1:c.-813C= (ABCG5) XP_011531329.1:n.-813C=
XM_011533027.3:c.-813C= (ABCG5) XP_011531329.1:n.-813C=
XM_011533029.1:c.76-5873G= (ABCG8) XP_011531331.1:n.76-5873G=
XM_011533029.2:c.76-5873G= (ABCG8) XP_011531331.1:n.76-5873G=
XM_011533030.1:c.76-5873G= (ABCG8) XP_011531332.1:n.76-5873G=
XM_011533030.2:c.76-5873G= (ABCG8) XP_011531332.1:n.76-5873G=
XM_011533031.1:c.-153-5873G= (ABCG8) XP_011531333.1:n.-153-5873G=
XR_001738891.1:n.580-5873G= (ABCG8)
XR_939707.1:n.566-5873G= (ABCG8)
XR_939707.2:n.580-5873G= (ABCG8)