Canonical Allele Identifier: CA2210143242

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169682G= , CM000678.2:g.16169682G=	GRCh38
NC_000016.9:g.16263539G= , CM000678.1:g.16263539G=	GRCh37
NC_000016.8:g.16171040G=	NCBI36
NG_007558.2:g.58790C=
NG_007558.3:g.58936C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2959C=	ENSP00000483331.2:p.Arg987=
ENST00000205557.12:c.2959C= MANE Select	ENSP00000205557.7:p.Arg987=
ENST00000205557.11:c.2959C=	ENSP00000205557.7:p.Arg987=
ENST00000456970.6:c.2784C=	ENSP00000405002.2:n.2784C=
ENST00000622290.4:c.*168C=	ENSP00000483331.1:n.*168C=
NM_001171.5:c.2959C=	NP_001162.4:p.Arg987=
XM_011522479.1:c.2926C=	XP_011520781.1:p.Arg976=
XM_011522480.1:c.2617C=	XP_011520782.1:p.Arg873=
XM_011522481.1:c.2617C=	XP_011520783.1:p.Arg873=
XR_932836.1:n.3194C=
XR_932837.1:n.3195C=
XR_932838.1:n.3195C=
NM_001351800.1:c.2617C=	NP_001338729.1:p.Arg873=
NR_147784.1:n.2821C=
XM_011522479.2:c.2926C=	XP_011520781.1:p.Arg976=
XM_011522481.3:c.2617C=	XP_011520783.1:p.Arg873=
XM_017023212.1:c.2791C=	XP_016878701.1:p.Arg931=
XM_017023214.1:c.2959C=	XP_016878703.1:p.Arg987=
XM_024450261.1:c.2995C=	XP_024306029.1:p.Arg999=
XR_932836.2:n.3140C=
XR_932837.3:n.3140C=
XR_932838.3:n.3140C=
NM_001171.6:c.2959C= MANE Select	NP_001162.5:p.Arg987=