Canonical Allele Identifier: CA394876255
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155023G>C , CM000678.2:g.16155023G>C GRCh38
NC_000016.9:g.16248880G>C , CM000678.1:g.16248880G>C GRCh37
NC_000016.8:g.16156381G>C NCBI36
NG_007558.2:g.73449C>G
NG_007558.3:g.73595C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.754C>G
ENST00000622290.5:c.*63C>G ENSP00000483331.2:n.*63C>G
ENST00000205557.12:c.3891C>G MANE Select ENSP00000205557.7:p.Ile1297Met
ENST00000640696.1:c.705C>G ENSP00000492197.1:p.Ile235Met
ENST00000205557.11:c.3891C>G ENSP00000205557.7:p.Ile1297Met
ENST00000456970.6:c.3516C>G ENSP00000405002.2:n.3516C>G
ENST00000576204.5:n.754C>G
ENST00000622290.4:c.*1100C>G ENSP00000483331.1:n.*1100C>G
NM_001171.5:c.3891C>G NP_001162.4:p.Ile1297Met
XM_011522479.1:c.3858C>G XP_011520781.1:p.Ile1286Met
XM_011522480.1:c.3549C>G XP_011520782.1:p.Ile1183Met
XM_011522481.1:c.3549C>G XP_011520783.1:p.Ile1183Met
XR_932836.1:n.4189C>G
XR_932837.1:n.3927C>G
XR_932838.1:n.3990C>G
XR_933134.1:n.539-4758G>C
NM_001351800.1:c.3549C>G NP_001338729.1:p.Ile1183Met
NR_147784.1:n.3553C>G
XM_011522479.2:c.3858C>G XP_011520781.1:p.Ile1286Met
XM_011522481.3:c.3549C>G XP_011520783.1:p.Ile1183Met
XM_017023212.1:c.3723C>G XP_016878701.1:p.Ile1241Met
XM_024450261.1:c.3927C>G XP_024306029.1:p.Ile1309Met
XR_932836.2:n.4135C>G
XR_932837.3:n.3872C>G
XR_932838.3:n.3935C>G
NM_001171.6:c.3891C>G MANE Select NP_001162.5:p.Ile1297Met