Canonical Allele Identifier: CA2210140017
Community Standard Title: NM_001171.6(ABCC6):c.3168C= (p.Asp1056=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16165761G= , CM000678.2:g.16165761G= GRCh38
NC_000016.9:g.16259618G= , CM000678.1:g.16259618G= GRCh37
NC_000016.8:g.16167119G= NCBI36
NG_007558.2:g.62711C=
NG_007558.3:g.62857C=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.3168C= MANE Select NP_001162.5:p.Asp1056=
ENST00000205557.12:c.3168C= MANE Select ENSP00000205557.7:p.Asp1056=
NM_001171.5:c.3168C= NP_001162.4:p.Asp1056=
NM_001351800.1:c.2826C= NP_001338729.1:p.Asp942=
NR_147784.1:n.3030C=
ENST00000205557.11:c.3168C= ENSP00000205557.7:p.Asp1056=
ENST00000456970.6:c.2993C= ENSP00000405002.2:n.2993C=
ENST00000622290.4:c.*377C= ENSP00000483331.1:n.*377C=
ENST00000622290.5:c.3168C= ENSP00000483331.2:p.Asp1056=
ENST00000640696.1:c.183C= ENSP00000492197.1:p.Asp61=
XM_011522479.1:c.3135C= XP_011520781.1:p.Asp1045=
XM_011522479.2:c.3135C= XP_011520781.1:p.Asp1045=
XM_011522480.1:c.2826C= XP_011520782.1:p.Asp942=
XM_011522481.1:c.2826C= XP_011520783.1:p.Asp942=
XM_011522481.3:c.2826C= XP_011520783.1:p.Asp942=
XM_017023212.1:c.3000C= XP_016878701.1:p.Asp1000=
XM_017023214.1:c.3168C= XP_016878703.1:p.Asp1056=
XM_024450261.1:c.3204C= XP_024306029.1:p.Asp1068=
XR_932836.1:n.3403C=
XR_932836.2:n.3349C=
XR_932837.1:n.3404C=
XR_932837.3:n.3349C=
XR_932838.1:n.3404C=
XR_932838.3:n.3349C=