Canonical Allele Identifier: CA2210136943

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163158C= , CM000678.2:g.16163158C=	GRCh38
NC_000016.9:g.16257015C= , CM000678.1:g.16257015C=	GRCh37
NC_000016.8:g.16164516C=	NCBI36
NG_007558.2:g.65314G=
NG_007558.3:g.65460G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3341G=	ENSP00000483331.2:p.Arg1114=
ENST00000205557.12:c.3341G= MANE Select	ENSP00000205557.7:p.Arg1114=
ENST00000640696.1:c.321-1594G=	ENSP00000492197.1:n.321-1594G=
ENST00000205557.11:c.3341G=	ENSP00000205557.7:p.Arg1114=
ENST00000456970.6:c.3132-1594G=	ENSP00000405002.2:n.3132-1594G=
ENST00000622290.4:c.*550G=	ENSP00000483331.1:n.*550G=
NM_001171.5:c.3341G=	NP_001162.4:p.Arg1114=
XM_011522479.1:c.3308G=	XP_011520781.1:p.Arg1103=
XM_011522480.1:c.2999G=	XP_011520782.1:p.Arg1000=
XM_011522481.1:c.2999G=	XP_011520783.1:p.Arg1000=
XR_932836.1:n.3576G=
XR_932837.1:n.3543-1594G=
XR_932838.1:n.3543-1594G=
XR_933133.1:n.407+315C=
XR_933134.1:n.754+315C=
NM_001351800.1:c.2999G=	NP_001338729.1:p.Arg1000=
NR_147784.1:n.3169-1594G=
XM_011522479.2:c.3308G=	XP_011520781.1:p.Arg1103=
XM_011522481.3:c.2999G=	XP_011520783.1:p.Arg1000=
XM_017023212.1:c.3173G=	XP_016878701.1:p.Arg1058=
XM_017023214.1:c.3307-1594G=	XP_016878703.1:n.3307-1594G=
XM_024450261.1:c.3377G=	XP_024306029.1:p.Arg1126=
XR_932836.2:n.3522G=
XR_932837.3:n.3488-1594G=
XR_932838.3:n.3488-1594G=
NM_001171.6:c.3341G= MANE Select	NP_001162.5:p.Arg1114=