Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43827982C>G , CM000664.2:g.43827982C>G	GRCh38
NC_000002.11:g.44055121C>G , CM000664.1:g.44055121C>G	GRCh37
NC_000002.10:g.43908625C>G	NCBI36
NG_008883.1:g.15838G>C
NG_053008.1:g.58944C>G
NG_008884.2:g.1041C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022436.3:c.634+1G>C (ABCG5) MANE Select	NP_071881.1:n.634+1G>C
ENST00000405322.8:c.634+1G>C (ABCG5) MANE Select	ENSP00000384513.2:n.634+1G>C
NM_001348912.1:c.*612C>G (DYNC2LI1)	NP_001335841.1:n.*612C>G
NM_001348912.2:c.*612C>G (DYNC2LI1)	NP_001335841.1:n.*612C>G
NM_001348913.1:c.*612C>G (DYNC2LI1)	NP_001335842.1:n.*612C>G
NM_001348913.2:c.*612C>G (DYNC2LI1)	NP_001335842.1:n.*612C>G
NM_022436.2:c.634+1G>C (ABCG5)	NP_071881.1:n.634+1G>C
ENST00000260645.5:c.634+1G>C (ABCG5)	ENSP00000260645.1:n.634+1G>C
ENST00000405322.5:c.391+1G>C (ABCG5)	ENSP00000384513.1:n.391+1G>C
ENST00000409962.1:c.391+1G>C (ABCG5)	ENSP00000386501.1:n.391+1G>C
ENST00000486512.5:c.*387+1G>C (ABCG5)	ENSP00000430935.1:n.*387+1G>C
ENST00000644754.1:n.1288+1G>C (ABCG5)
XM_005264480.2:c.634+1G>C (ABCG5)	XP_005264537.1:n.634+1G>C
XM_005264480.4:c.634+1G>C (ABCG5)	XP_005264537.1:n.634+1G>C
XM_006712073.2:c.634+1G>C (ABCG5)	XP_006712136.1:n.634+1G>C
XM_006712073.3:c.634+1G>C (ABCG5)	XP_006712136.1:n.634+1G>C
XM_006712074.2:c.634+1G>C (ABCG5)	XP_006712137.1:n.634+1G>C
XM_006712074.3:c.634+1G>C (ABCG5)	XP_006712137.1:n.634+1G>C
XM_011533024.1:c.634+1G>C (ABCG5)	XP_011531326.1:n.634+1G>C
XM_011533024.2:c.634+1G>C (ABCG5)	XP_011531326.1:n.634+1G>C
XM_011533025.1:c.391+1G>C (ABCG5)	XP_011531327.1:n.391+1G>C
XM_011533025.3:c.391+1G>C (ABCG5)	XP_011531327.1:n.391+1G>C
XM_011533026.1:c.634+1G>C (ABCG5)	XP_011531328.1:n.634+1G>C
XM_011533026.2:c.634+1G>C (ABCG5)	XP_011531328.1:n.634+1G>C
XM_011533027.1:c.121+1G>C (ABCG5)	XP_011531329.1:n.121+1G>C
XM_011533027.3:c.121+1G>C (ABCG5)	XP_011531329.1:n.121+1G>C
XM_011533028.1:c.-64+1G>C (ABCG5)	XP_011531330.1:n.-64+1G>C
XM_011533028.2:c.-64+1G>C (ABCG5)	XP_011531330.1:n.-64+1G>C