Canonical Allele Identifier: CA394877794

Gene: ABCC6

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3803G>T MANE Select	NP_001162.5:p.Arg1268Leu
ENST00000205557.12:c.3803G>T MANE Select	ENSP00000205557.7:p.Arg1268Leu
NM_001171.5:c.3803G>T	NP_001162.4:p.Arg1268Leu
NM_001351800.1:c.3461G>T	NP_001338729.1:p.Arg1154Leu
NR_147784.1:n.3465G>T
ENST00000205557.11:c.3803G>T	ENSP00000205557.7:p.Arg1268Leu
ENST00000456970.6:c.3428G>T	ENSP00000405002.2:n.3428G>T
ENST00000622290.4:c.*1012G>T	ENSP00000483331.1:n.*1012G>T
ENST00000622290.5:c.3803G>T	ENSP00000483331.2:p.Arg1268Leu
ENST00000640696.1:c.617G>T	ENSP00000492197.1:p.Arg206Leu
XM_011522479.1:c.3770G>T	XP_011520781.1:p.Arg1257Leu
XM_011522479.2:c.3770G>T	XP_011520781.1:p.Arg1257Leu
XM_011522480.1:c.3461G>T	XP_011520782.1:p.Arg1154Leu
XM_011522481.1:c.3461G>T	XP_011520783.1:p.Arg1154Leu
XM_011522481.3:c.3461G>T	XP_011520783.1:p.Arg1154Leu
XM_017023212.1:c.3635G>T	XP_016878701.1:p.Arg1212Leu
XM_024450261.1:c.3839G>T	XP_024306029.1:p.Arg1280Leu
XR_932836.1:n.4038G>T
XR_932836.2:n.3984G>T
XR_932837.1:n.3839G>T
XR_932837.3:n.3784G>T
XR_932838.1:n.3839G>T
XR_932838.3:n.3784G>T
XR_933134.1:n.539-2039C>A