Canonical Allele Identifier: CA2210140585
Community Standard Title: NM_001171.6(ABCC6):c.4081G= (p.Asp1361=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154755C= , CM000678.2:g.16154755C= GRCh38
NC_000016.9:g.16248612C= , CM000678.1:g.16248612C= GRCh37
NC_000016.8:g.16156113C= NCBI36
NG_007558.2:g.73717G=
NG_007558.3:g.73863G=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.4081G= MANE Select NP_001162.5:p.Asp1361=
ENST00000205557.12:c.4081G= MANE Select ENSP00000205557.7:p.Asp1361=
NM_001171.5:c.4081G= NP_001162.4:p.Asp1361=
NM_001351800.1:c.3739G= NP_001338729.1:p.Asp1247=
NR_147784.1:n.3743G=
ENST00000205557.11:c.4081G= ENSP00000205557.7:p.Asp1361=
ENST00000456970.6:c.3706G= ENSP00000405002.2:n.3706G=
ENST00000576204.5:n.944G=
ENST00000576204.6:n.944G=
ENST00000622290.4:c.*1290G= ENSP00000483331.1:n.*1290G=
ENST00000622290.5:c.*253G= ENSP00000483331.2:n.*253G=
ENST00000640696.1:c.895G= ENSP00000492197.1:p.Asp299=
XM_011522479.1:c.4048G= XP_011520781.1:p.Asp1350=
XM_011522479.2:c.4048G= XP_011520781.1:p.Asp1350=
XM_011522480.1:c.3739G= XP_011520782.1:p.Asp1247=
XM_011522481.1:c.3739G= XP_011520783.1:p.Asp1247=
XM_011522481.3:c.3739G= XP_011520783.1:p.Asp1247=
XM_017023212.1:c.3913G= XP_016878701.1:p.Asp1305=
XM_024450261.1:c.4117G= XP_024306029.1:p.Asp1373=
XR_933134.1:n.539-5026C=