Canonical Allele Identifier: CA2210140957
Community Standard Title: NM_001171.6(ABCC6):c.3971G= (p.Trp1324=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154943C= , CM000678.2:g.16154943C= GRCh38
NC_000016.9:g.16248800C= , CM000678.1:g.16248800C= GRCh37
NC_000016.8:g.16156301C= NCBI36
NG_007558.2:g.73529G=
NG_007558.3:g.73675G=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.3971G= MANE Select NP_001162.5:p.Trp1324=
ENST00000205557.12:c.3971G= MANE Select ENSP00000205557.7:p.Trp1324=
NM_001171.5:c.3971G= NP_001162.4:p.Trp1324=
NM_001351800.1:c.3629G= NP_001338729.1:p.Trp1210=
NR_147784.1:n.3633G=
ENST00000205557.11:c.3971G= ENSP00000205557.7:p.Trp1324=
ENST00000456970.6:c.3596G= ENSP00000405002.2:n.3596G=
ENST00000576204.5:n.834G=
ENST00000576204.6:n.834G=
ENST00000622290.4:c.*1180G= ENSP00000483331.1:n.*1180G=
ENST00000622290.5:c.*143G= ENSP00000483331.2:n.*143G=
ENST00000640696.1:c.785G= ENSP00000492197.1:p.Trp262=
XM_011522479.1:c.3938G= XP_011520781.1:p.Trp1313=
XM_011522479.2:c.3938G= XP_011520781.1:p.Trp1313=
XM_011522480.1:c.3629G= XP_011520782.1:p.Trp1210=
XM_011522481.1:c.3629G= XP_011520783.1:p.Trp1210=
XM_011522481.3:c.3629G= XP_011520783.1:p.Trp1210=
XM_017023212.1:c.3803G= XP_016878701.1:p.Trp1268=
XM_024450261.1:c.4007G= XP_024306029.1:p.Trp1336=
XR_932837.3:n.3952G=
XR_933134.1:n.539-4838C=