Canonical Allele Identifier: CA2210140412

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154634T= , CM000678.2:g.16154634T=	GRCh38
NC_000016.9:g.16248491T= , CM000678.1:g.16248491T=	GRCh37
NC_000016.8:g.16155992T=	NCBI36
NG_007558.2:g.73838A=
NG_007558.3:g.73984A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*374A=	ENSP00000483331.2:n.*374A=
ENST00000205557.12:c.4202A= MANE Select	ENSP00000205557.7:p.Asp1401=
ENST00000640696.1:c.1016A=	ENSP00000492197.1:p.Asp339=
ENST00000205557.11:c.4202A=	ENSP00000205557.7:p.Asp1401=
ENST00000456970.6:c.3827A=	ENSP00000405002.2:n.3827A=
ENST00000576204.5:n.1065A=
ENST00000622290.4:c.*1411A=	ENSP00000483331.1:n.*1411A=
NM_001171.5:c.4202A=	NP_001162.4:p.Asp1401=
XM_011522479.1:c.4169A=	XP_011520781.1:p.Asp1390=
XM_011522480.1:c.3860A=	XP_011520782.1:p.Asp1287=
XM_011522481.1:c.3860A=	XP_011520783.1:p.Asp1287=
XR_933134.1:n.539-5147T=
NM_001351800.1:c.3860A=	NP_001338729.1:p.Asp1287=
NR_147784.1:n.3864A=
XM_011522479.2:c.4169A=	XP_011520781.1:p.Asp1390=
XM_011522481.3:c.3860A=	XP_011520783.1:p.Asp1287=
XM_017023212.1:c.4034A=	XP_016878701.1:p.Asp1345=
XM_024450261.1:c.4238A=	XP_024306029.1:p.Asp1413=
NM_001171.6:c.4202A= MANE Select	NP_001162.5:p.Asp1401=