Canonical Allele Identifier: CA394875566
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154913C>T , CM000678.2:g.16154913C>T GRCh38
NC_000016.9:g.16248770C>T , CM000678.1:g.16248770C>T GRCh37
NC_000016.8:g.16156271C>T NCBI36
NG_007558.2:g.73559G>A
NG_007558.3:g.73705G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.864G>A
ENST00000622290.5:c.*173G>A ENSP00000483331.2:n.*173G>A
ENST00000205557.12:c.4001G>A MANE Select ENSP00000205557.7:p.Gly1334Glu
ENST00000640696.1:c.815G>A ENSP00000492197.1:p.Gly272Glu
ENST00000205557.11:c.4001G>A ENSP00000205557.7:p.Gly1334Glu
ENST00000456970.6:c.3626G>A ENSP00000405002.2:n.3626G>A
ENST00000576204.5:n.864G>A
ENST00000622290.4:c.*1210G>A ENSP00000483331.1:n.*1210G>A
NM_001171.5:c.4001G>A NP_001162.4:p.Gly1334Glu
XM_011522479.1:c.3968G>A XP_011520781.1:p.Gly1323Glu
XM_011522480.1:c.3659G>A XP_011520782.1:p.Gly1220Glu
XM_011522481.1:c.3659G>A XP_011520783.1:p.Gly1220Glu
XR_933134.1:n.539-4868C>T
NM_001351800.1:c.3659G>A NP_001338729.1:p.Gly1220Glu
NR_147784.1:n.3663G>A
XM_011522479.2:c.3968G>A XP_011520781.1:p.Gly1323Glu
XM_011522481.3:c.3659G>A XP_011520783.1:p.Gly1220Glu
XM_017023212.1:c.3833G>A XP_016878701.1:p.Gly1278Glu
XM_024450261.1:c.4037G>A XP_024306029.1:p.Gly1346Glu
NM_001171.6:c.4001G>A MANE Select NP_001162.5:p.Gly1334Glu