Canonical Allele Identifier: CA253377

Linked Data

ClinVar Variation Id: 4981
ClinVar RCV Id: RCV000005269
dbSNP Id: rs119480070
gnomAD v2: 2-44065009-C-A
gnomAD v3: 2-43837870-C-A
gnomAD v4: 2-43837870-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43837870C>A , CM000664.2:g.43837870C>A GRCh38
NC_000002.11:g.44065009C>A , CM000664.1:g.44065009C>A GRCh37
NC_000002.10:g.43918513C>A NCBI36
NG_008883.1:g.5950G>T
NG_008884.1:g.3907C>A
NG_008884.2:g.10929C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000405322.8:c.229G>T (ABCG5) MANE Select ENSP00000384513.2:p.Glu77Ter
ENST00000643284.1:n.520+5209C>A (ABCG8)
ENST00000644611.1:c.75+5209C>A (ABCG8) ENSP00000495423.1:n.75+5209C>A
ENST00000644754.1:n.883G>T (ABCG5)
ENST00000260645.5:c.229G>T (ABCG5) ENSP00000260645.1:p.Glu77Ter
ENST00000405322.5:c.-15G>T (ABCG5) ENSP00000384513.1:n.-15G>T
ENST00000409962.1:c.-15G>T (ABCG5) ENSP00000386501.1:n.-15G>T
ENST00000486512.5:c.-15G>T (ABCG5) ENSP00000430935.1:n.-15G>T
NM_022436.2:c.229G>T (ABCG5) NP_071881.1:p.Glu77Ter
XM_005264480.2:c.229G>T (ABCG5) XP_005264537.1:p.Glu77Ter
XM_006712073.2:c.229G>T (ABCG5) XP_006712136.1:p.Glu77Ter
XM_006712074.2:c.229G>T (ABCG5) XP_006712137.1:p.Glu77Ter
XM_011533024.1:c.229G>T (ABCG5) XP_011531326.1:p.Glu77Ter
XM_011533025.1:c.-15G>T (ABCG5) XP_011531327.1:n.-15G>T
XM_011533026.1:c.229G>T (ABCG5) XP_011531328.1:p.Glu77Ter
XM_011533027.1:c.-49G>T (ABCG5) XP_011531329.1:n.-49G>T
XM_011533029.1:c.75+5209C>A (ABCG8) XP_011531331.1:n.75+5209C>A
XM_011533030.1:c.75+5209C>A (ABCG8) XP_011531332.1:n.75+5209C>A
XM_011533031.1:c.-153-6637C>A (ABCG8) XP_011531333.1:n.-153-6637C>A
XR_939707.1:n.565+5209C>A (ABCG8)
XM_005264480.4:c.229G>T (ABCG5) XP_005264537.1:p.Glu77Ter
XM_006712073.3:c.229G>T (ABCG5) XP_006712136.1:p.Glu77Ter
XM_006712074.3:c.229G>T (ABCG5) XP_006712137.1:p.Glu77Ter
XM_011533024.2:c.229G>T (ABCG5) XP_011531326.1:p.Glu77Ter
XM_011533025.3:c.-15G>T (ABCG5) XP_011531327.1:n.-15G>T
XM_011533026.2:c.229G>T (ABCG5) XP_011531328.1:p.Glu77Ter
XM_011533027.3:c.-49G>T (ABCG5) XP_011531329.1:n.-49G>T
XM_011533029.2:c.75+5209C>A (ABCG8) XP_011531331.1:n.75+5209C>A
XM_011533030.2:c.75+5209C>A (ABCG8) XP_011531332.1:n.75+5209C>A
XR_001738891.1:n.579+5209C>A (ABCG8)
XR_939707.2:n.579+5209C>A (ABCG8)
NM_022436.3:c.229G>T (ABCG5) MANE Select NP_071881.1:p.Glu77Ter