Canonical Allele Identifier: CA2210141050

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155011G= , CM000678.2:g.16155011G=	GRCh38
NC_000016.9:g.16248868G= , CM000678.1:g.16248868G=	GRCh37
NC_000016.8:g.16156369G=	NCBI36
NG_007558.2:g.73461C=
NG_007558.3:g.73607C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.766C=
ENST00000622290.5:c.*75C=	ENSP00000483331.2:n.*75C=
ENST00000205557.12:c.3903C= MANE Select	ENSP00000205557.7:p.Thr1301=
ENST00000640696.1:c.717C=	ENSP00000492197.1:p.Thr239=
ENST00000205557.11:c.3903C=	ENSP00000205557.7:p.Thr1301=
ENST00000456970.6:c.3528C=	ENSP00000405002.2:n.3528C=
ENST00000576204.5:n.766C=
ENST00000622290.4:c.*1112C=	ENSP00000483331.1:n.*1112C=
NM_001171.5:c.3903C=	NP_001162.4:p.Thr1301=
XM_011522479.1:c.3870C=	XP_011520781.1:p.Thr1290=
XM_011522480.1:c.3561C=	XP_011520782.1:p.Thr1187=
XM_011522481.1:c.3561C=	XP_011520783.1:p.Thr1187=
XR_932836.1:n.4201C=
XR_932837.1:n.3939C=
XR_932838.1:n.4002C=
XR_933134.1:n.539-4770G=
NM_001351800.1:c.3561C=	NP_001338729.1:p.Thr1187=
NR_147784.1:n.3565C=
XM_011522479.2:c.3870C=	XP_011520781.1:p.Thr1290=
XM_011522481.3:c.3561C=	XP_011520783.1:p.Thr1187=
XM_017023212.1:c.3735C=	XP_016878701.1:p.Thr1245=
XM_024450261.1:c.3939C=	XP_024306029.1:p.Thr1313=
XR_932836.2:n.4147C=
XR_932837.3:n.3884C=
XR_932838.3:n.3947C=
NM_001171.6:c.3903C= MANE Select	NP_001162.5:p.Thr1301=