Canonical Allele Identifier: CA2210129446
Community Standard Title: NM_001171.6(ABCC6):c.3775T= (p.Trp1259=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16157770A= , CM000678.2:g.16157770A= GRCh38
NC_000016.9:g.16251627A= , CM000678.1:g.16251627A= GRCh37
NC_000016.8:g.16159128A= NCBI36
NG_007558.2:g.70702T=
NG_007558.3:g.70848T=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.3775T= MANE Select NP_001162.5:p.Trp1259=
ENST00000205557.12:c.3775T= MANE Select ENSP00000205557.7:p.Trp1259=
NM_001171.5:c.3775T= NP_001162.4:p.Trp1259=
NM_001351800.1:c.3433T= NP_001338729.1:p.Trp1145=
NR_147784.1:n.3437T=
ENST00000205557.11:c.3775T= ENSP00000205557.7:p.Trp1259=
ENST00000456970.6:c.3400T= ENSP00000405002.2:n.3400T=
ENST00000622290.4:c.*984T= ENSP00000483331.1:n.*984T=
ENST00000622290.5:c.3775T= ENSP00000483331.2:p.Trp1259=
ENST00000640696.1:c.589T= ENSP00000492197.1:p.Trp197=
XM_011522479.1:c.3742T= XP_011520781.1:p.Trp1248=
XM_011522479.2:c.3742T= XP_011520781.1:p.Trp1248=
XM_011522480.1:c.3433T= XP_011520782.1:p.Trp1145=
XM_011522481.1:c.3433T= XP_011520783.1:p.Trp1145=
XM_011522481.3:c.3433T= XP_011520783.1:p.Trp1145=
XM_017023212.1:c.3607T= XP_016878701.1:p.Trp1203=
XM_024450261.1:c.3811T= XP_024306029.1:p.Trp1271=
XR_932836.1:n.4010T=
XR_932836.2:n.3956T=
XR_932837.1:n.3811T=
XR_932837.3:n.3756T=
XR_932838.1:n.3811T=
XR_932838.3:n.3756T=
XR_933134.1:n.539-2011A=