Canonical Allele Identifier: CA2210143340
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169853C= , CM000678.2:g.16169853C= GRCh38
NC_000016.9:g.16263710C= , CM000678.1:g.16263710C= GRCh37
NC_000016.8:g.16171211C= NCBI36
NG_007558.2:g.58619G=
NG_007558.3:g.58765G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2788G= ENSP00000483331.2:p.Val930=
ENST00000205557.12:c.2788G= MANE Select ENSP00000205557.7:p.Val930=
ENST00000205557.11:c.2788G= ENSP00000205557.7:p.Val930=
ENST00000456970.6:c.2613G= ENSP00000405002.2:p.Gly871=
ENST00000622290.4:c.2613G= ENSP00000483331.1:p.Gly871=
NM_001171.5:c.2788G= NP_001162.4:p.Val930=
XM_011522479.1:c.2755G= XP_011520781.1:p.Val919=
XM_011522480.1:c.2446G= XP_011520782.1:p.Val816=
XM_011522481.1:c.2446G= XP_011520783.1:p.Val816=
XR_932836.1:n.3023G=
XR_932837.1:n.3024G=
XR_932838.1:n.3024G=
NM_001351800.1:c.2446G= NP_001338729.1:p.Val816=
NR_147784.1:n.2650G=
XM_011522479.2:c.2755G= XP_011520781.1:p.Val919=
XM_011522481.3:c.2446G= XP_011520783.1:p.Val816=
XM_017023212.1:c.2620G= XP_016878701.1:p.Val874=
XM_017023214.1:c.2788G= XP_016878703.1:p.Val930=
XM_024450261.1:c.2824G= XP_024306029.1:p.Val942=
XR_932836.2:n.2969G=
XR_932837.3:n.2969G=
XR_932838.3:n.2969G=
NM_001171.6:c.2788G= MANE Select NP_001162.5:p.Val930=