Canonical Allele Identifier: CA2210152492

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16198102C= , CM000678.2:g.16198102C=	GRCh38
NC_000016.9:g.16291959C= , CM000678.1:g.16291959C=	GRCh37
NC_000016.8:g.16199460C=	NCBI36
NG_007558.2:g.30370G=
NG_007558.3:g.30516G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000574094.6:c.1257G=	ENSP00000507301.1:p.Arg419=
ENST00000622290.5:c.1257G=	ENSP00000483331.2:p.Arg419=
ENST00000205557.12:c.1257G= MANE Select	ENSP00000205557.7:p.Arg419=
ENST00000205557.11:c.1257G=	ENSP00000205557.7:p.Arg419=
ENST00000456970.6:c.1257G=	ENSP00000405002.2:p.Arg419=
ENST00000574094.5:n.1353G=
ENST00000622290.4:c.1257G=	ENSP00000483331.1:p.Arg419=
NM_001171.5:c.1257G=	NP_001162.4:p.Arg419=
XM_011522479.1:c.1257G=	XP_011520781.1:p.Arg419=
XM_011522480.1:c.915G=	XP_011520782.1:p.Arg305=
XM_011522481.1:c.915G=	XP_011520783.1:p.Arg305=
XM_011522482.1:c.1257G=	XP_011520784.1:p.Arg419=
XR_932836.1:n.1492G=
XR_932837.1:n.1493G=
XR_932838.1:n.1493G=
NM_001351800.1:c.915G=	NP_001338729.1:p.Arg305=
NR_147784.1:n.1294G=
XM_011522479.2:c.1257G=	XP_011520781.1:p.Arg419=
XM_011522481.3:c.915G=	XP_011520783.1:p.Arg305=
XM_011522482.3:c.1257G=	XP_011520784.1:p.Arg419=
XM_017023212.1:c.1257G=	XP_016878701.1:p.Arg419=
XM_017023214.1:c.1257G=	XP_016878703.1:p.Arg419=
XM_024450261.1:c.1293G=	XP_024306029.1:p.Arg431=
XR_932836.2:n.1438G=
XR_932837.3:n.1438G=
XR_932838.3:n.1438G=
NM_001171.6:c.1257G= MANE Select	NP_001162.5:p.Arg419=