Canonical Allele Identifier: CA394875572
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154914C>T , CM000678.2:g.16154914C>T GRCh38
NC_000016.9:g.16248771C>T , CM000678.1:g.16248771C>T GRCh37
NC_000016.8:g.16156272C>T NCBI36
NG_007558.2:g.73558G>A
NG_007558.3:g.73704G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.863G>A
ENST00000622290.5:c.*172G>A ENSP00000483331.2:n.*172G>A
ENST00000205557.12:c.4000G>A MANE Select ENSP00000205557.7:p.Gly1334Arg
ENST00000640696.1:c.814G>A ENSP00000492197.1:p.Gly272Arg
ENST00000205557.11:c.4000G>A ENSP00000205557.7:p.Gly1334Arg
ENST00000456970.6:c.3625G>A ENSP00000405002.2:n.3625G>A
ENST00000576204.5:n.863G>A
ENST00000622290.4:c.*1209G>A ENSP00000483331.1:n.*1209G>A
NM_001171.5:c.4000G>A NP_001162.4:p.Gly1334Arg
XM_011522479.1:c.3967G>A XP_011520781.1:p.Gly1323Arg
XM_011522480.1:c.3658G>A XP_011520782.1:p.Gly1220Arg
XM_011522481.1:c.3658G>A XP_011520783.1:p.Gly1220Arg
XR_933134.1:n.539-4867C>T
NM_001351800.1:c.3658G>A NP_001338729.1:p.Gly1220Arg
NR_147784.1:n.3662G>A
XM_011522479.2:c.3967G>A XP_011520781.1:p.Gly1323Arg
XM_011522481.3:c.3658G>A XP_011520783.1:p.Gly1220Arg
XM_017023212.1:c.3832G>A XP_016878701.1:p.Gly1278Arg
XM_024450261.1:c.4036G>A XP_024306029.1:p.Gly1346Arg
NM_001171.6:c.4000G>A MANE Select NP_001162.5:p.Gly1334Arg