Canonical Allele Identifier: CA425748399

Gene: ABCG5 ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43837892G>C , CM000664.2:g.43837892G>C	GRCh38
NC_000002.11:g.44065031G>C , CM000664.1:g.44065031G>C	GRCh37
NC_000002.10:g.43918535G>C	NCBI36
NG_008883.1:g.5928C>G
NG_008884.1:g.3929G>C
NG_008884.2:g.10951G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_022436.3:c.207C>G (ABCG5) MANE Select	NP_071881.1:p.Leu69=
ENST00000405322.8:c.207C>G (ABCG5) MANE Select	ENSP00000384513.2:p.Leu69=
NM_022436.2:c.207C>G (ABCG5)	NP_071881.1:p.Leu69=
ENST00000260645.5:c.207C>G (ABCG5)	ENSP00000260645.1:p.Leu69=
ENST00000405322.5:c.-37C>G (ABCG5)	ENSP00000384513.1:n.-37C>G
ENST00000409962.1:c.-37C>G (ABCG5)	ENSP00000386501.1:n.-37C>G
ENST00000486512.5:c.-37C>G (ABCG5)	ENSP00000430935.1:n.-37C>G
ENST00000643284.1:n.520+5231G>C (ABCG8)
ENST00000644611.1:c.75+5231G>C (ABCG8)	ENSP00000495423.1:n.75+5231G>C
ENST00000644754.1:n.861C>G (ABCG5)
XM_005264480.2:c.207C>G (ABCG5)	XP_005264537.1:p.Leu69=
XM_005264480.4:c.207C>G (ABCG5)	XP_005264537.1:p.Leu69=
XM_006712073.2:c.207C>G (ABCG5)	XP_006712136.1:p.Leu69=
XM_006712073.3:c.207C>G (ABCG5)	XP_006712136.1:p.Leu69=
XM_006712074.2:c.207C>G (ABCG5)	XP_006712137.1:p.Leu69=
XM_006712074.3:c.207C>G (ABCG5)	XP_006712137.1:p.Leu69=
XM_011533024.1:c.207C>G (ABCG5)	XP_011531326.1:p.Leu69=
XM_011533024.2:c.207C>G (ABCG5)	XP_011531326.1:p.Leu69=
XM_011533025.1:c.-37C>G (ABCG5)	XP_011531327.1:n.-37C>G
XM_011533025.3:c.-37C>G (ABCG5)	XP_011531327.1:n.-37C>G
XM_011533026.1:c.207C>G (ABCG5)	XP_011531328.1:p.Leu69=
XM_011533026.2:c.207C>G (ABCG5)	XP_011531328.1:p.Leu69=
XM_011533027.1:c.-71C>G (ABCG5)	XP_011531329.1:n.-71C>G
XM_011533027.3:c.-71C>G (ABCG5)	XP_011531329.1:n.-71C>G
XM_011533029.1:c.75+5231G>C (ABCG8)	XP_011531331.1:n.75+5231G>C
XM_011533029.2:c.75+5231G>C (ABCG8)	XP_011531331.1:n.75+5231G>C
XM_011533030.1:c.75+5231G>C (ABCG8)	XP_011531332.1:n.75+5231G>C
XM_011533030.2:c.75+5231G>C (ABCG8)	XP_011531332.1:n.75+5231G>C
XM_011533031.1:c.-153-6615G>C (ABCG8)	XP_011531333.1:n.-153-6615G>C
XR_001738891.1:n.579+5231G>C (ABCG8)
XR_939707.1:n.565+5231G>C (ABCG8)
XR_939707.2:n.579+5231G>C (ABCG8)