Canonical Allele Identifier: CA2210138437
Community Standard Title: NM_001171.6(ABCC6):c.1460G= (p.Arg487=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16190339C= , CM000678.2:g.16190339C= GRCh38
NC_000016.9:g.16284196C= , CM000678.1:g.16284196C= GRCh37
NC_000016.8:g.16191697C= NCBI36
NG_007558.2:g.38133G=
NG_007558.3:g.38279G=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.1460G= MANE Select NP_001162.5:p.Arg487=
ENST00000205557.12:c.1460G= MANE Select ENSP00000205557.7:p.Arg487=
NM_001171.5:c.1460G= NP_001162.4:p.Arg487=
NM_001351800.1:c.1118G= NP_001338729.1:p.Arg373=
NR_147784.1:n.1497G=
ENST00000205557.11:c.1460G= ENSP00000205557.7:p.Arg487=
ENST00000456970.6:c.1460G= ENSP00000405002.2:p.Arg487=
ENST00000574094.5:n.1556G=
ENST00000622290.4:c.1460G= ENSP00000483331.1:p.Arg487=
ENST00000622290.5:c.1460G= ENSP00000483331.2:p.Arg487=
XM_011522479.1:c.1460G= XP_011520781.1:p.Arg487=
XM_011522479.2:c.1460G= XP_011520781.1:p.Arg487=
XM_011522480.1:c.1118G= XP_011520782.1:p.Arg373=
XM_011522481.1:c.1118G= XP_011520783.1:p.Arg373=
XM_011522481.3:c.1118G= XP_011520783.1:p.Arg373=
XM_011522482.1:c.1460G= XP_011520784.1:p.Arg487=
XM_011522482.3:c.1460G= XP_011520784.1:p.Arg487=
XM_017023212.1:c.1460G= XP_016878701.1:p.Arg487=
XM_017023214.1:c.1460G= XP_016878703.1:p.Arg487=
XM_024450261.1:c.1496G= XP_024306029.1:p.Arg499=
XR_932836.1:n.1695G=
XR_932836.2:n.1641G=
XR_932837.1:n.1696G=
XR_932837.3:n.1641G=
XR_932838.1:n.1696G=
XR_932838.3:n.1641G=