Canonical Allele Identifier: CA1636712

Gene: ABCG5 ABCG8

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43832024A>G , CM000664.2:g.43832024A>G	GRCh38
NC_000002.11:g.44059163A>G , CM000664.1:g.44059163A>G	GRCh37
NC_000002.10:g.43912667A>G	NCBI36
NG_008883.1:g.11796T>C
NG_008884.2:g.5083A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022436.3:c.325T>C (ABCG5) MANE Select	NP_071881.1:p.Phe109Leu
ENST00000405322.8:c.325T>C (ABCG5) MANE Select	ENSP00000384513.2:p.Phe109Leu
NM_022436.2:c.325T>C (ABCG5)	NP_071881.1:p.Phe109Leu
ENST00000260645.5:c.325T>C (ABCG5)	ENSP00000260645.1:p.Phe109Leu
ENST00000405322.5:c.82T>C (ABCG5)	ENSP00000384513.1:p.Phe28Leu
ENST00000409962.1:c.82T>C (ABCG5)	ENSP00000386501.1:p.Phe28Leu
ENST00000486512.5:c.82T>C (ABCG5)	ENSP00000430935.1:p.Phe28Leu
ENST00000644611.1:c.-563A>G (ABCG8)	ENSP00000495423.1:n.-563A>G
ENST00000644754.1:n.979T>C (ABCG5)
XM_005264480.2:c.325T>C (ABCG5)	XP_005264537.1:p.Phe109Leu
XM_005264480.4:c.325T>C (ABCG5)	XP_005264537.1:p.Phe109Leu
XM_006712073.2:c.325T>C (ABCG5)	XP_006712136.1:p.Phe109Leu
XM_006712073.3:c.325T>C (ABCG5)	XP_006712136.1:p.Phe109Leu
XM_006712074.2:c.325T>C (ABCG5)	XP_006712137.1:p.Phe109Leu
XM_006712074.3:c.325T>C (ABCG5)	XP_006712137.1:p.Phe109Leu
XM_011533024.1:c.325T>C (ABCG5)	XP_011531326.1:p.Phe109Leu
XM_011533024.2:c.325T>C (ABCG5)	XP_011531326.1:p.Phe109Leu
XM_011533025.1:c.82T>C (ABCG5)	XP_011531327.1:p.Phe28Leu
XM_011533025.3:c.82T>C (ABCG5)	XP_011531327.1:p.Phe28Leu
XM_011533026.1:c.325T>C (ABCG5)	XP_011531328.1:p.Phe109Leu
XM_011533026.2:c.325T>C (ABCG5)	XP_011531328.1:p.Phe109Leu
XM_011533027.1:c.-12-3909T>C (ABCG5)	XP_011531329.1:n.-12-3909T>C
XM_011533027.3:c.-12-3909T>C (ABCG5)	XP_011531329.1:n.-12-3909T>C
XM_011533029.2:c.-563A>G (ABCG8)	XP_011531331.1:n.-563A>G
XM_011533031.1:c.-154+1228A>G (ABCG8)	XP_011531333.1:n.-154+1228A>G