Canonical Allele Identifier: CA2210140421
Community Standard Title: NM_001171.6(ABCC6):c.4198G= (p.Glu1400=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154638C= , CM000678.2:g.16154638C= GRCh38
NC_000016.9:g.16248495C= , CM000678.1:g.16248495C= GRCh37
NC_000016.8:g.16155996C= NCBI36
NG_007558.2:g.73834G=
NG_007558.3:g.73980G=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.4198G= MANE Select NP_001162.5:p.Glu1400=
ENST00000205557.12:c.4198G= MANE Select ENSP00000205557.7:p.Glu1400=
NM_001171.5:c.4198G= NP_001162.4:p.Glu1400=
NM_001351800.1:c.3856G= NP_001338729.1:p.Glu1286=
NR_147784.1:n.3860G=
ENST00000205557.11:c.4198G= ENSP00000205557.7:p.Glu1400=
ENST00000456970.6:c.3823G= ENSP00000405002.2:n.3823G=
ENST00000576204.5:n.1061G=
ENST00000622290.4:c.*1407G= ENSP00000483331.1:n.*1407G=
ENST00000622290.5:c.*370G= ENSP00000483331.2:n.*370G=
ENST00000640696.1:c.1012G= ENSP00000492197.1:p.Glu338=
XM_011522479.1:c.4165G= XP_011520781.1:p.Glu1389=
XM_011522479.2:c.4165G= XP_011520781.1:p.Glu1389=
XM_011522480.1:c.3856G= XP_011520782.1:p.Glu1286=
XM_011522481.1:c.3856G= XP_011520783.1:p.Glu1286=
XM_011522481.3:c.3856G= XP_011520783.1:p.Glu1286=
XM_017023212.1:c.4030G= XP_016878701.1:p.Glu1344=
XM_024450261.1:c.4234G= XP_024306029.1:p.Glu1412=
XR_933134.1:n.539-5143C=