Canonical Allele Identifier: CA2210161095
Community Standard Title: NM_001171.6(ABCC6):c.496C= (p.Arg166=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16214428G= , CM000678.2:g.16214428G= GRCh38
NC_000016.9:g.16308285G= , CM000678.1:g.16308285G= GRCh37
NC_000016.8:g.16215786G= NCBI36
NG_007558.2:g.14044C=
NG_007558.3:g.14190C=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.496C= MANE Select NP_001162.5:p.Arg166=
ENST00000205557.12:c.496C= MANE Select ENSP00000205557.7:p.Arg166=
NM_001171.5:c.496C= NP_001162.4:p.Arg166=
NM_001351800.1:c.154C= NP_001338729.1:p.Arg52=
NR_147784.1:n.533C=
ENST00000205557.11:c.496C= ENSP00000205557.7:p.Arg166=
ENST00000456970.6:c.496C= ENSP00000405002.2:p.Arg166=
ENST00000574094.5:n.592C=
ENST00000574094.6:c.496C= ENSP00000507301.1:p.Arg166=
ENST00000577103.1:c.*363C= ENSP00000459243.1:n.*363C=
ENST00000622290.4:c.496C= ENSP00000483331.1:p.Arg166=
ENST00000622290.5:c.496C= ENSP00000483331.2:p.Arg166=
XM_011522479.1:c.496C= XP_011520781.1:p.Arg166=
XM_011522479.2:c.496C= XP_011520781.1:p.Arg166=
XM_011522480.1:c.154C= XP_011520782.1:p.Arg52=
XM_011522481.1:c.154C= XP_011520783.1:p.Arg52=
XM_011522481.3:c.154C= XP_011520783.1:p.Arg52=
XM_011522482.1:c.496C= XP_011520784.1:p.Arg166=
XM_011522482.3:c.496C= XP_011520784.1:p.Arg166=
XM_017023212.1:c.496C= XP_016878701.1:p.Arg166=
XM_017023214.1:c.496C= XP_016878703.1:p.Arg166=
XM_024450261.1:c.532C= XP_024306029.1:p.Arg178=
XR_001752340.1:n.596-823G=
XR_001752341.1:n.595+1402G=
XR_001752342.1:n.390-823G=
XR_932836.1:n.731C=
XR_932836.2:n.677C=
XR_932837.1:n.732C=
XR_932837.3:n.677C=
XR_932838.1:n.732C=
XR_932838.3:n.677C=
XR_933132.1:n.381+2337G=
XR_933132.2:n.389+2337G=