Canonical Allele Identifier: CA394875593
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154923C>G , CM000678.2:g.16154923C>G GRCh38
NC_000016.9:g.16248780C>G , CM000678.1:g.16248780C>G GRCh37
NC_000016.8:g.16156281C>G NCBI36
NG_007558.2:g.73549G>C
NG_007558.3:g.73695G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.854G>C
ENST00000622290.5:c.*163G>C ENSP00000483331.2:n.*163G>C
ENST00000205557.12:c.3991G>C MANE Select ENSP00000205557.7:p.Ala1331Pro
ENST00000640696.1:c.805G>C ENSP00000492197.1:p.Ala269Pro
ENST00000205557.11:c.3991G>C ENSP00000205557.7:p.Ala1331Pro
ENST00000456970.6:c.3616G>C ENSP00000405002.2:n.3616G>C
ENST00000576204.5:n.854G>C
ENST00000622290.4:c.*1200G>C ENSP00000483331.1:n.*1200G>C
NM_001171.5:c.3991G>C NP_001162.4:p.Ala1331Pro
XM_011522479.1:c.3958G>C XP_011520781.1:p.Ala1320Pro
XM_011522480.1:c.3649G>C XP_011520782.1:p.Ala1217Pro
XM_011522481.1:c.3649G>C XP_011520783.1:p.Ala1217Pro
XR_933134.1:n.539-4858C>G
NM_001351800.1:c.3649G>C NP_001338729.1:p.Ala1217Pro
NR_147784.1:n.3653G>C
XM_011522479.2:c.3958G>C XP_011520781.1:p.Ala1320Pro
XM_011522481.3:c.3649G>C XP_011520783.1:p.Ala1217Pro
XM_017023212.1:c.3823G>C XP_016878701.1:p.Ala1275Pro
XM_024450261.1:c.4027G>C XP_024306029.1:p.Ala1343Pro
NM_001171.6:c.3991G>C MANE Select NP_001162.5:p.Ala1331Pro