Canonical Allele Identifier: CA1636713

Linked Data

ClinVar Variation Id: 289815
dbSNP Id: rs145164937
gnomAD v2: 2-44059195-G-C
gnomAD v3: 2-43832056-G-C
gnomAD v4: 2-43832056-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43832056G>C , CM000664.2:g.43832056G>C GRCh38
NC_000002.11:g.44059195G>C , CM000664.1:g.44059195G>C GRCh37
NC_000002.10:g.43912699G>C NCBI36
NG_008883.1:g.11764C>G
NG_008884.2:g.5115G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000405322.8:c.293C>G (ABCG5) MANE Select ENSP00000384513.2:p.Ala98Gly
ENST00000644611.1:c.-531G>C (ABCG8) ENSP00000495423.1:n.-531G>C
ENST00000644754.1:n.947C>G (ABCG5)
ENST00000260645.5:c.293C>G (ABCG5) ENSP00000260645.1:p.Ala98Gly
ENST00000405322.5:c.50C>G (ABCG5) ENSP00000384513.1:p.Ala17Gly
ENST00000409962.1:c.50C>G (ABCG5) ENSP00000386501.1:p.Ala17Gly
ENST00000486512.5:c.50C>G (ABCG5) ENSP00000430935.1:p.Ala17Gly
NM_022436.2:c.293C>G (ABCG5) NP_071881.1:p.Ala98Gly
XM_005264480.2:c.293C>G (ABCG5) XP_005264537.1:p.Ala98Gly
XM_006712073.2:c.293C>G (ABCG5) XP_006712136.1:p.Ala98Gly
XM_006712074.2:c.293C>G (ABCG5) XP_006712137.1:p.Ala98Gly
XM_011533024.1:c.293C>G (ABCG5) XP_011531326.1:p.Ala98Gly
XM_011533025.1:c.50C>G (ABCG5) XP_011531327.1:p.Ala17Gly
XM_011533026.1:c.293C>G (ABCG5) XP_011531328.1:p.Ala98Gly
XM_011533027.1:c.-12-3941C>G (ABCG5) XP_011531329.1:n.-12-3941C>G
XM_011533031.1:c.-154+1260G>C (ABCG8) XP_011531333.1:n.-154+1260G>C
XM_005264480.4:c.293C>G (ABCG5) XP_005264537.1:p.Ala98Gly
XM_006712073.3:c.293C>G (ABCG5) XP_006712136.1:p.Ala98Gly
XM_006712074.3:c.293C>G (ABCG5) XP_006712137.1:p.Ala98Gly
XM_011533024.2:c.293C>G (ABCG5) XP_011531326.1:p.Ala98Gly
XM_011533025.3:c.50C>G (ABCG5) XP_011531327.1:p.Ala17Gly
XM_011533026.2:c.293C>G (ABCG5) XP_011531328.1:p.Ala98Gly
XM_011533027.3:c.-12-3941C>G (ABCG5) XP_011531329.1:n.-12-3941C>G
XM_011533029.2:c.-531G>C (ABCG8) XP_011531331.1:n.-531G>C
NM_022436.3:c.293C>G (ABCG5) MANE Select NP_071881.1:p.Ala98Gly