Canonical Allele Identifier: CA2210136424
Community Standard Title: NM_001171.6(ABCC6):c.3490C= (p.Arg1164=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16163009G= , CM000678.2:g.16163009G= GRCh38
NC_000016.9:g.16256866G= , CM000678.1:g.16256866G= GRCh37
NC_000016.8:g.16164367G= NCBI36
NG_007558.2:g.65463C=
NG_007558.3:g.65609C=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.3490C= MANE Select NP_001162.5:p.Arg1164=
ENST00000205557.12:c.3490C= MANE Select ENSP00000205557.7:p.Arg1164=
NM_001171.5:c.3490C= NP_001162.4:p.Arg1164=
NM_001351800.1:c.3148C= NP_001338729.1:p.Arg1050=
NR_147784.1:n.3169-1445C=
ENST00000205557.11:c.3490C= ENSP00000205557.7:p.Arg1164=
ENST00000456970.6:c.3132-1445C= ENSP00000405002.2:n.3132-1445C=
ENST00000622290.4:c.*699C= ENSP00000483331.1:n.*699C=
ENST00000622290.5:c.3490C= ENSP00000483331.2:p.Arg1164=
ENST00000640696.1:c.321-1445C= ENSP00000492197.1:n.321-1445C=
XM_011522479.1:c.3457C= XP_011520781.1:p.Arg1153=
XM_011522479.2:c.3457C= XP_011520781.1:p.Arg1153=
XM_011522480.1:c.3148C= XP_011520782.1:p.Arg1050=
XM_011522481.1:c.3148C= XP_011520783.1:p.Arg1050=
XM_011522481.3:c.3148C= XP_011520783.1:p.Arg1050=
XM_017023212.1:c.3322C= XP_016878701.1:p.Arg1108=
XM_017023214.1:c.3307-1445C= XP_016878703.1:n.3307-1445C=
XM_024450261.1:c.3526C= XP_024306029.1:p.Arg1176=
XR_932836.1:n.3725C=
XR_932836.2:n.3671C=
XR_932837.1:n.3543-1445C=
XR_932837.3:n.3488-1445C=
XR_932838.1:n.3543-1445C=
XR_932838.3:n.3488-1445C=
XR_933133.1:n.407+166G=
XR_933134.1:n.754+166G=