Canonical Allele Identifier: CA2210131985
Community Standard Title: NM_001171.6(ABCC6):c.3668G= (p.Trp1223=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16159549C= , CM000678.2:g.16159549C= GRCh38
NC_000016.9:g.16253406C= , CM000678.1:g.16253406C= GRCh37
NC_000016.8:g.16160907C= NCBI36
NG_007558.2:g.68923G=
NG_007558.3:g.69069G=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.3668G= MANE Select NP_001162.5:p.Trp1223=
ENST00000205557.12:c.3668G= MANE Select ENSP00000205557.7:p.Trp1223=
NM_001171.5:c.3668G= NP_001162.4:p.Trp1223=
NM_001351800.1:c.3326G= NP_001338729.1:p.Trp1109=
NR_147784.1:n.3330G=
ENST00000205557.11:c.3668G= ENSP00000205557.7:p.Trp1223=
ENST00000456970.6:c.3293G= ENSP00000405002.2:n.3293G=
ENST00000622290.4:c.*877G= ENSP00000483331.1:n.*877G=
ENST00000622290.5:c.3668G= ENSP00000483331.2:p.Trp1223=
ENST00000640696.1:c.482G= ENSP00000492197.1:p.Trp161=
XM_011522479.1:c.3635G= XP_011520781.1:p.Trp1212=
XM_011522479.2:c.3635G= XP_011520781.1:p.Trp1212=
XM_011522480.1:c.3326G= XP_011520782.1:p.Trp1109=
XM_011522481.1:c.3326G= XP_011520783.1:p.Trp1109=
XM_011522481.3:c.3326G= XP_011520783.1:p.Trp1109=
XM_017023212.1:c.3500G= XP_016878701.1:p.Trp1167=
XM_024450261.1:c.3704G= XP_024306029.1:p.Trp1235=
XR_932836.1:n.3903G=
XR_932836.2:n.3849G=
XR_932837.1:n.3704G=
XR_932837.3:n.3649G=
XR_932838.1:n.3704G=
XR_932838.3:n.3649G=
XR_933134.1:n.539-232C=