Canonical Allele Identifier: CA46461482
Community Standard Title: NM_022436.3(ABCG5):c.1348G>C (p.Asp450His)
Gene: ABCG5 HGNC NCBI
DYNC2LI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43822912C>G , CM000664.2:g.43822912C>G GRCh38
NC_000002.11:g.44050051C>G , CM000664.1:g.44050051C>G GRCh37
NC_000002.10:g.43903555C>G NCBI36
NG_008883.1:g.20908G>C
NG_053008.1:g.53874C>G

Transcript Alleles

HGVS Amino-acid Change
NM_022436.3:c.1348G>C (ABCG5) MANE Select NP_071881.1:p.Asp450His
ENST00000405322.8:c.1348G>C (ABCG5) MANE Select ENSP00000384513.2:p.Asp450His
NM_001348912.1:c.*16-4474C>G (DYNC2LI1) NP_001335841.1:n.*16-4474C>G
NM_001348912.2:c.*16-4474C>G (DYNC2LI1) NP_001335841.1:n.*16-4474C>G
NM_001348913.1:c.*16-4474C>G (DYNC2LI1) NP_001335842.1:n.*16-4474C>G
NM_001348913.2:c.*16-4474C>G (DYNC2LI1) NP_001335842.1:n.*16-4474C>G
NM_022436.2:c.1348G>C (ABCG5) NP_071881.1:p.Asp450His
ENST00000260645.5:c.1348G>C (ABCG5) ENSP00000260645.1:p.Asp450His
ENST00000405322.5:c.835G>C (ABCG5) ENSP00000384513.1:p.Asp279His
ENST00000409962.1:c.*222G>C (ABCG5) ENSP00000386501.1:n.*222G>C
ENST00000486512.5:c.*617G>C (ABCG5) ENSP00000430935.1:n.*617G>C
ENST00000644754.1:n.1732G>C (ABCG5)
XM_005264364.3:c.*16-4474C>G (DYNC2LI1) XP_005264421.1:n.*16-4474C>G
XM_005264365.3:c.*16-4474C>G (DYNC2LI1) XP_005264422.1:n.*16-4474C>G
XM_005264480.2:c.1348G>C (ABCG5) XP_005264537.1:p.Asp450His
XM_005264480.4:c.1348G>C (ABCG5) XP_005264537.1:p.Asp450His
XM_006712073.2:c.1348G>C (ABCG5) XP_006712136.1:p.Asp450His
XM_006712073.3:c.1348G>C (ABCG5) XP_006712136.1:p.Asp450His
XM_011533024.1:c.1213G>C (ABCG5) XP_011531326.1:p.Asp405His
XM_011533024.2:c.1213G>C (ABCG5) XP_011531326.1:p.Asp405His
XM_011533025.1:c.1105G>C (ABCG5) XP_011531327.1:p.Asp369His
XM_011533025.3:c.1105G>C (ABCG5) XP_011531327.1:p.Asp369His
XM_011533026.1:c.1078G>C (ABCG5) XP_011531328.1:p.Asp360His
XM_011533026.2:c.1078G>C (ABCG5) XP_011531328.1:p.Asp360His
XM_011533027.1:c.835G>C (ABCG5) XP_011531329.1:p.Asp279His
XM_011533027.3:c.835G>C (ABCG5) XP_011531329.1:p.Asp279His
XM_011533028.1:c.511G>C (ABCG5) XP_011531330.1:p.Asp171His
XM_011533028.2:c.511G>C (ABCG5) XP_011531330.1:p.Asp171His