Canonical Allele Identifier: CA394876188
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155013T>G , CM000678.2:g.16155013T>G GRCh38
NC_000016.9:g.16248870T>G , CM000678.1:g.16248870T>G GRCh37
NC_000016.8:g.16156371T>G NCBI36
NG_007558.2:g.73459A>C
NG_007558.3:g.73605A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.764A>C
ENST00000622290.5:c.*73A>C ENSP00000483331.2:n.*73A>C
ENST00000205557.12:c.3901A>C MANE Select ENSP00000205557.7:p.Thr1301Pro
ENST00000640696.1:c.715A>C ENSP00000492197.1:p.Thr239Pro
ENST00000205557.11:c.3901A>C ENSP00000205557.7:p.Thr1301Pro
ENST00000456970.6:c.3526A>C ENSP00000405002.2:n.3526A>C
ENST00000576204.5:n.764A>C
ENST00000622290.4:c.*1110A>C ENSP00000483331.1:n.*1110A>C
NM_001171.5:c.3901A>C NP_001162.4:p.Thr1301Pro
XM_011522479.1:c.3868A>C XP_011520781.1:p.Thr1290Pro
XM_011522480.1:c.3559A>C XP_011520782.1:p.Thr1187Pro
XM_011522481.1:c.3559A>C XP_011520783.1:p.Thr1187Pro
XR_932836.1:n.4199A>C
XR_932837.1:n.3937A>C
XR_932838.1:n.4000A>C
XR_933134.1:n.539-4768T>G
NM_001351800.1:c.3559A>C NP_001338729.1:p.Thr1187Pro
NR_147784.1:n.3563A>C
XM_011522479.2:c.3868A>C XP_011520781.1:p.Thr1290Pro
XM_011522481.3:c.3559A>C XP_011520783.1:p.Thr1187Pro
XM_017023212.1:c.3733A>C XP_016878701.1:p.Thr1245Pro
XM_024450261.1:c.3937A>C XP_024306029.1:p.Thr1313Pro
XR_932836.2:n.4145A>C
XR_932837.3:n.3882A>C
XR_932838.3:n.3945A>C
NM_001171.6:c.3901A>C MANE Select NP_001162.5:p.Thr1301Pro