Canonical Allele Identifier: CA1636236
Community Standard Title: NM_022436.3(ABCG5):c.1528C>A (p.His510Asn)
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43820036G>T , CM000664.2:g.43820036G>T GRCh38
NC_000002.11:g.44047175G>T , CM000664.1:g.44047175G>T GRCh37
NC_000002.10:g.43900679G>T NCBI36
NG_008883.1:g.23784C>A
NG_053008.1:g.50998G>T

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.1528C>A (ABCG5) MANE Select NP_071881.1:p.His510Asn
ENST00000405322.8:c.1528C>A (ABCG5) MANE Select ENSP00000384513.2:p.His510Asn
NM_001348912.1:c.*16-7350G>T (DYNC2LI1) NP_001335841.1:n.*16-7350G>T
NM_001348912.2:c.*16-7350G>T (DYNC2LI1) NP_001335841.1:n.*16-7350G>T
NM_001348913.1:c.*16-7350G>T (DYNC2LI1) NP_001335842.1:n.*16-7350G>T
NM_001348913.2:c.*16-7350G>T (DYNC2LI1) NP_001335842.1:n.*16-7350G>T
NM_022436.2:c.1528C>A (ABCG5) NP_071881.1:p.His510Asn
ENST00000260645.5:c.1528C>A (ABCG5) ENSP00000260645.1:p.His510Asn
ENST00000405322.5:c.1015C>A (ABCG5) ENSP00000384513.1:p.His339Asn
ENST00000409962.1:c.*402C>A (ABCG5) ENSP00000386501.1:n.*402C>A
ENST00000486512.5:c.*797C>A (ABCG5) ENSP00000430935.1:n.*797C>A
ENST00000644754.1:n.1912C>A (ABCG5)
XM_005264364.3:c.*16-7350G>T (DYNC2LI1) XP_005264421.1:n.*16-7350G>T
XM_005264365.3:c.*16-7350G>T (DYNC2LI1) XP_005264422.1:n.*16-7350G>T
XM_005264480.2:c.1528C>A (ABCG5) XP_005264537.1:p.His510Asn
XM_005264480.4:c.1528C>A (ABCG5) XP_005264537.1:p.His510Asn
XM_006712073.2:c.1528C>A (ABCG5) XP_006712136.1:p.His510Asn
XM_006712073.3:c.1528C>A (ABCG5) XP_006712136.1:p.His510Asn
XM_011533024.1:c.1393C>A (ABCG5) XP_011531326.1:p.His465Asn
XM_011533024.2:c.1393C>A (ABCG5) XP_011531326.1:p.His465Asn
XM_011533025.1:c.1285C>A (ABCG5) XP_011531327.1:p.His429Asn
XM_011533025.3:c.1285C>A (ABCG5) XP_011531327.1:p.His429Asn
XM_011533026.1:c.1258C>A (ABCG5) XP_011531328.1:p.His420Asn
XM_011533026.2:c.1258C>A (ABCG5) XP_011531328.1:p.His420Asn
XM_011533027.1:c.1015C>A (ABCG5) XP_011531329.1:p.His339Asn
XM_011533027.3:c.1015C>A (ABCG5) XP_011531329.1:p.His339Asn
XM_011533028.1:c.691C>A (ABCG5) XP_011531330.1:p.His231Asn
XM_011533028.2:c.691C>A (ABCG5) XP_011531330.1:p.His231Asn