Canonical Allele Identifier: CA1636759
Community Standard Title: NM_022436.3(ABCG5):c.151G>A (p.Val51Met)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43837948C>T , CM000664.2:g.43837948C>T GRCh38
NC_000002.11:g.44065087C>T , CM000664.1:g.44065087C>T GRCh37
NC_000002.10:g.43918591C>T NCBI36
NG_008883.1:g.5872G>A
NG_008884.1:g.3985C>T
NG_008884.2:g.11007C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.151G>A (ABCG5) MANE Select NP_071881.1:p.Val51Met
ENST00000405322.8:c.151G>A (ABCG5) MANE Select ENSP00000384513.2:p.Val51Met
NM_022436.2:c.151G>A (ABCG5) NP_071881.1:p.Val51Met
ENST00000260645.5:c.151G>A (ABCG5) ENSP00000260645.1:p.Val51Met
ENST00000405322.5:c.-93G>A (ABCG5) ENSP00000384513.1:n.-93G>A
ENST00000409962.1:c.-93G>A (ABCG5) ENSP00000386501.1:n.-93G>A
ENST00000486512.5:c.-93G>A (ABCG5) ENSP00000430935.1:n.-93G>A
ENST00000643284.1:n.520+5287C>T (ABCG8)
ENST00000644611.1:c.75+5287C>T (ABCG8) ENSP00000495423.1:n.75+5287C>T
ENST00000644754.1:n.805G>A (ABCG5)
XM_005264480.2:c.151G>A (ABCG5) XP_005264537.1:p.Val51Met
XM_005264480.4:c.151G>A (ABCG5) XP_005264537.1:p.Val51Met
XM_006712073.2:c.151G>A (ABCG5) XP_006712136.1:p.Val51Met
XM_006712073.3:c.151G>A (ABCG5) XP_006712136.1:p.Val51Met
XM_006712074.2:c.151G>A (ABCG5) XP_006712137.1:p.Val51Met
XM_006712074.3:c.151G>A (ABCG5) XP_006712137.1:p.Val51Met
XM_011533024.1:c.151G>A (ABCG5) XP_011531326.1:p.Val51Met
XM_011533024.2:c.151G>A (ABCG5) XP_011531326.1:p.Val51Met
XM_011533025.1:c.-93G>A (ABCG5) XP_011531327.1:n.-93G>A
XM_011533025.3:c.-93G>A (ABCG5) XP_011531327.1:n.-93G>A
XM_011533026.1:c.151G>A (ABCG5) XP_011531328.1:p.Val51Met
XM_011533026.2:c.151G>A (ABCG5) XP_011531328.1:p.Val51Met
XM_011533027.1:c.-127G>A (ABCG5) XP_011531329.1:n.-127G>A
XM_011533027.3:c.-127G>A (ABCG5) XP_011531329.1:n.-127G>A
XM_011533029.1:c.75+5287C>T (ABCG8) XP_011531331.1:n.75+5287C>T
XM_011533029.2:c.75+5287C>T (ABCG8) XP_011531331.1:n.75+5287C>T
XM_011533030.1:c.75+5287C>T (ABCG8) XP_011531332.1:n.75+5287C>T
XM_011533030.2:c.75+5287C>T (ABCG8) XP_011531332.1:n.75+5287C>T
XM_011533031.1:c.-153-6559C>T (ABCG8) XP_011531333.1:n.-153-6559C>T
XR_001738891.1:n.579+5287C>T (ABCG8)
XR_939707.1:n.565+5287C>T (ABCG8)
XR_939707.2:n.579+5287C>T (ABCG8)