Canonical Allele Identifier: CA1636791
Community Standard Title: NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43838541C>A , CM000664.2:g.43838541C>A GRCh38
NC_000002.11:g.44065680C>A , CM000664.1:g.44065680C>A GRCh37
NC_000002.10:g.43919184C>A NCBI36
NG_008883.1:g.5279G>T
NG_008884.1:g.4578C>A
NG_008884.2:g.11600C>A

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.139G>T (ABCG5) MANE Select NP_071881.1:p.Val47Phe
ENST00000405322.8:c.139G>T (ABCG5) MANE Select ENSP00000384513.2:p.Val47Phe
NM_022436.2:c.139G>T (ABCG5) NP_071881.1:p.Val47Phe
ENST00000260645.5:c.139G>T (ABCG5) ENSP00000260645.1:p.Val47Phe
ENST00000405322.5:c.-686G>T (ABCG5) ENSP00000384513.1:n.-686G>T
ENST00000409962.1:c.-686G>T (ABCG5) ENSP00000386501.1:n.-686G>T
ENST00000486512.5:c.-686G>T (ABCG5) ENSP00000430935.1:n.-686G>T
ENST00000643284.1:n.520+5880C>A (ABCG8)
ENST00000644611.1:c.75+5880C>A (ABCG8) ENSP00000495423.1:n.75+5880C>A
ENST00000644754.1:n.212G>T (ABCG5)
XM_005264480.2:c.139G>T (ABCG5) XP_005264537.1:p.Val47Phe
XM_005264480.4:c.139G>T (ABCG5) XP_005264537.1:p.Val47Phe
XM_006712073.2:c.139G>T (ABCG5) XP_006712136.1:p.Val47Phe
XM_006712073.3:c.139G>T (ABCG5) XP_006712136.1:p.Val47Phe
XM_006712074.2:c.139G>T (ABCG5) XP_006712137.1:p.Val47Phe
XM_006712074.3:c.139G>T (ABCG5) XP_006712137.1:p.Val47Phe
XM_011533024.1:c.139G>T (ABCG5) XP_011531326.1:p.Val47Phe
XM_011533024.2:c.139G>T (ABCG5) XP_011531326.1:p.Val47Phe
XM_011533025.1:c.-605G>T (ABCG5) XP_011531327.1:n.-605G>T
XM_011533025.3:c.-605G>T (ABCG5) XP_011531327.1:n.-605G>T
XM_011533026.1:c.139G>T (ABCG5) XP_011531328.1:p.Val47Phe
XM_011533026.2:c.139G>T (ABCG5) XP_011531328.1:p.Val47Phe
XM_011533027.1:c.-720G>T (ABCG5) XP_011531329.1:n.-720G>T
XM_011533027.3:c.-720G>T (ABCG5) XP_011531329.1:n.-720G>T
XM_011533029.1:c.75+5880C>A (ABCG8) XP_011531331.1:n.75+5880C>A
XM_011533029.2:c.75+5880C>A (ABCG8) XP_011531331.1:n.75+5880C>A
XM_011533030.1:c.75+5880C>A (ABCG8) XP_011531332.1:n.75+5880C>A
XM_011533030.2:c.75+5880C>A (ABCG8) XP_011531332.1:n.75+5880C>A
XM_011533031.1:c.-153-5966C>A (ABCG8) XP_011531333.1:n.-153-5966C>A
XR_001738891.1:n.579+5880C>A (ABCG8)
XR_939707.1:n.565+5880C>A (ABCG8)
XR_939707.2:n.579+5880C>A (ABCG8)