Canonical Allele Identifier: CA2210146588
Community Standard Title: NM_001171.6(ABCC6):c.2643G= (p.Arg881=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16175934C= , CM000678.2:g.16175934C= GRCh38
NC_000016.9:g.16269791C= , CM000678.1:g.16269791C= GRCh37
NC_000016.8:g.16177292C= NCBI36
NG_007558.2:g.52538G=
NG_007558.3:g.52684G=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.2643G= MANE Select NP_001162.5:p.Arg881=
ENST00000205557.12:c.2643G= MANE Select ENSP00000205557.7:p.Arg881=
NM_001171.5:c.2643G= NP_001162.4:p.Arg881=
NM_001351800.1:c.2301G= NP_001338729.1:p.Arg767=
NR_147784.1:n.2505G=
ENST00000205557.11:c.2643G= ENSP00000205557.7:p.Arg881=
ENST00000456970.6:c.2468G= ENSP00000405002.2:p.Gly823=
ENST00000576683.1:n.130G=
ENST00000622290.4:c.2468G= ENSP00000483331.1:p.Gly823=
ENST00000622290.5:c.2643G= ENSP00000483331.2:p.Arg881=
XM_011522479.1:c.2610G= XP_011520781.1:p.Arg870=
XM_011522479.2:c.2610G= XP_011520781.1:p.Arg870=
XM_011522480.1:c.2301G= XP_011520782.1:p.Arg767=
XM_011522481.1:c.2301G= XP_011520783.1:p.Arg767=
XM_011522481.3:c.2301G= XP_011520783.1:p.Arg767=
XM_011522482.1:c.2650G= XP_011520784.1:p.Glu884=
XM_011522482.3:c.2650G= XP_011520784.1:p.Glu884=
XM_017023212.1:c.2475G= XP_016878701.1:p.Arg825=
XM_017023214.1:c.2643G= XP_016878703.1:p.Arg881=
XM_024450261.1:c.2679G= XP_024306029.1:p.Arg893=
XR_932836.1:n.2878G=
XR_932836.2:n.2824G=
XR_932837.1:n.2879G=
XR_932837.3:n.2824G=
XR_932838.1:n.2879G=
XR_932838.3:n.2824G=