Canonical Allele Identifier: CA2210135250

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150738C= , CM000678.2:g.16150738C=	GRCh38
NC_000016.9:g.16244595C= , CM000678.1:g.16244595C=	GRCh37
NC_000016.8:g.16152096C=	NCBI36
NG_007558.2:g.77734G=
NG_007558.3:g.77880G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*415G=	ENSP00000483331.2:n.*415G=
ENST00000205557.12:c.4243G= MANE Select	ENSP00000205557.7:p.Ala1415=
ENST00000640696.1:c.1057G=	ENSP00000492197.1:p.Ala353=
ENST00000205557.11:c.4243G=	ENSP00000205557.7:p.Ala1415=
ENST00000456970.6:c.3868G=	ENSP00000405002.2:n.3868G=
ENST00000576204.5:n.1106G=
ENST00000622290.4:c.*1452G=	ENSP00000483331.1:n.*1452G=
NM_001171.5:c.4243G=	NP_001162.4:p.Ala1415=
XM_011522479.1:c.4210G=	XP_011520781.1:p.Ala1404=
XM_011522480.1:c.3901G=	XP_011520782.1:p.Ala1301=
XM_011522481.1:c.3901G=	XP_011520783.1:p.Ala1301=
XR_933134.1:n.538+6448C=
NM_001351800.1:c.3901G=	NP_001338729.1:p.Ala1301=
NR_147784.1:n.3905G=
XM_011522479.2:c.4210G=	XP_011520781.1:p.Ala1404=
XM_011522481.3:c.3901G=	XP_011520783.1:p.Ala1301=
XM_017023212.1:c.4075G=	XP_016878701.1:p.Ala1359=
XM_024450261.1:c.4279G=	XP_024306029.1:p.Ala1427=
NM_001171.6:c.4243G= MANE Select	NP_001162.5:p.Ala1415=