Canonical Allele Identifier: CA2210136880

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163146G= , CM000678.2:g.16163146G=	GRCh38
NC_000016.9:g.16257003G= , CM000678.1:g.16257003G=	GRCh37
NC_000016.8:g.16164504G=	NCBI36
NG_007558.2:g.65326C=
NG_007558.3:g.65472C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3353C=	ENSP00000483331.2:p.Ala1118=
ENST00000205557.12:c.3353C= MANE Select	ENSP00000205557.7:p.Ala1118=
ENST00000640696.1:c.321-1582C=	ENSP00000492197.1:n.321-1582C=
ENST00000205557.11:c.3353C=	ENSP00000205557.7:p.Ala1118=
ENST00000456970.6:c.3132-1582C=	ENSP00000405002.2:n.3132-1582C=
ENST00000622290.4:c.*562C=	ENSP00000483331.1:n.*562C=
NM_001171.5:c.3353C=	NP_001162.4:p.Ala1118=
XM_011522479.1:c.3320C=	XP_011520781.1:p.Ala1107=
XM_011522480.1:c.3011C=	XP_011520782.1:p.Ala1004=
XM_011522481.1:c.3011C=	XP_011520783.1:p.Ala1004=
XR_932836.1:n.3588C=
XR_932837.1:n.3543-1582C=
XR_932838.1:n.3543-1582C=
XR_933133.1:n.407+303G=
XR_933134.1:n.754+303G=
NM_001351800.1:c.3011C=	NP_001338729.1:p.Ala1004=
NR_147784.1:n.3169-1582C=
XM_011522479.2:c.3320C=	XP_011520781.1:p.Ala1107=
XM_011522481.3:c.3011C=	XP_011520783.1:p.Ala1004=
XM_017023212.1:c.3185C=	XP_016878701.1:p.Ala1062=
XM_017023214.1:c.3307-1582C=	XP_016878703.1:n.3307-1582C=
XM_024450261.1:c.3389C=	XP_024306029.1:p.Ala1130=
XR_932836.2:n.3534C=
XR_932837.3:n.3488-1582C=
XR_932838.3:n.3488-1582C=
NM_001171.6:c.3353C= MANE Select	NP_001162.5:p.Ala1118=