Canonical Allele Identifier: CA394877791

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16157742C>G , CM000678.2:g.16157742C>G	GRCh38
NC_000016.9:g.16251599C>G , CM000678.1:g.16251599C>G	GRCh37
NC_000016.8:g.16159100C>G	NCBI36
NG_007558.2:g.70730G>C
NG_007558.3:g.70876G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3803G>C MANE Select	NP_001162.5:p.Arg1268Pro
ENST00000205557.12:c.3803G>C MANE Select	ENSP00000205557.7:p.Arg1268Pro
NM_001171.5:c.3803G>C	NP_001162.4:p.Arg1268Pro
NM_001351800.1:c.3461G>C	NP_001338729.1:p.Arg1154Pro
NR_147784.1:n.3465G>C
ENST00000205557.11:c.3803G>C	ENSP00000205557.7:p.Arg1268Pro
ENST00000456970.6:c.3428G>C	ENSP00000405002.2:n.3428G>C
ENST00000622290.4:c.*1012G>C	ENSP00000483331.1:n.*1012G>C
ENST00000622290.5:c.3803G>C	ENSP00000483331.2:p.Arg1268Pro
ENST00000640696.1:c.617G>C	ENSP00000492197.1:p.Arg206Pro
XM_011522479.1:c.3770G>C	XP_011520781.1:p.Arg1257Pro
XM_011522479.2:c.3770G>C	XP_011520781.1:p.Arg1257Pro
XM_011522480.1:c.3461G>C	XP_011520782.1:p.Arg1154Pro
XM_011522481.1:c.3461G>C	XP_011520783.1:p.Arg1154Pro
XM_011522481.3:c.3461G>C	XP_011520783.1:p.Arg1154Pro
XM_017023212.1:c.3635G>C	XP_016878701.1:p.Arg1212Pro
XM_024450261.1:c.3839G>C	XP_024306029.1:p.Arg1280Pro
XR_932836.1:n.4038G>C
XR_932836.2:n.3984G>C
XR_932837.1:n.3839G>C
XR_932837.3:n.3784G>C
XR_932838.1:n.3839G>C
XR_932838.3:n.3784G>C
XR_933134.1:n.539-2039C>G