Canonical Allele Identifier: CA2210143292
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169771T= , CM000678.2:g.16169771T= GRCh38
NC_000016.9:g.16263628T= , CM000678.1:g.16263628T= GRCh37
NC_000016.8:g.16171129T= NCBI36
NG_007558.2:g.58701A=
NG_007558.3:g.58847A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2870A= ENSP00000483331.2:p.Gln957=
ENST00000205557.12:c.2870A= MANE Select ENSP00000205557.7:p.Gln957=
ENST00000205557.11:c.2870A= ENSP00000205557.7:p.Gln957=
ENST00000456970.6:c.2695A= ENSP00000405002.2:n.2695A=
ENST00000622290.4:c.*79A= ENSP00000483331.1:n.*79A=
NM_001171.5:c.2870A= NP_001162.4:p.Gln957=
XM_011522479.1:c.2837A= XP_011520781.1:p.Gln946=
XM_011522480.1:c.2528A= XP_011520782.1:p.Gln843=
XM_011522481.1:c.2528A= XP_011520783.1:p.Gln843=
XR_932836.1:n.3105A=
XR_932837.1:n.3106A=
XR_932838.1:n.3106A=
NM_001351800.1:c.2528A= NP_001338729.1:p.Gln843=
NR_147784.1:n.2732A=
XM_011522479.2:c.2837A= XP_011520781.1:p.Gln946=
XM_011522481.3:c.2528A= XP_011520783.1:p.Gln843=
XM_017023212.1:c.2702A= XP_016878701.1:p.Gln901=
XM_017023214.1:c.2870A= XP_016878703.1:p.Gln957=
XM_024450261.1:c.2906A= XP_024306029.1:p.Gln969=
XR_932836.2:n.3051A=
XR_932837.3:n.3051A=
XR_932838.3:n.3051A=
NM_001171.6:c.2870A= MANE Select NP_001162.5:p.Gln957=