Canonical Allele Identifier: CA2210143229
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169658C= , CM000678.2:g.16169658C= GRCh38
NC_000016.9:g.16263515C= , CM000678.1:g.16263515C= GRCh37
NC_000016.8:g.16171016C= NCBI36
NG_007558.2:g.58814G=
NG_007558.3:g.58960G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2983G= ENSP00000483331.2:p.Gly995=
ENST00000205557.12:c.2983G= MANE Select ENSP00000205557.7:p.Gly995=
ENST00000205557.11:c.2983G= ENSP00000205557.7:p.Gly995=
ENST00000456970.6:c.2808G= ENSP00000405002.2:n.2808G=
ENST00000622290.4:c.*192G= ENSP00000483331.1:n.*192G=
NM_001171.5:c.2983G= NP_001162.4:p.Gly995=
XM_011522479.1:c.2950G= XP_011520781.1:p.Gly984=
XM_011522480.1:c.2641G= XP_011520782.1:p.Gly881=
XM_011522481.1:c.2641G= XP_011520783.1:p.Gly881=
XR_932836.1:n.3218G=
XR_932837.1:n.3219G=
XR_932838.1:n.3219G=
NM_001351800.1:c.2641G= NP_001338729.1:p.Gly881=
NR_147784.1:n.2845G=
XM_011522479.2:c.2950G= XP_011520781.1:p.Gly984=
XM_011522481.3:c.2641G= XP_011520783.1:p.Gly881=
XM_017023212.1:c.2815G= XP_016878701.1:p.Gly939=
XM_017023214.1:c.2983G= XP_016878703.1:p.Gly995=
XM_024450261.1:c.3019G= XP_024306029.1:p.Gly1007=
XR_932836.2:n.3164G=
XR_932837.3:n.3164G=
XR_932838.3:n.3164G=
NM_001171.6:c.2983G= MANE Select NP_001162.5:p.Gly995=