Canonical Allele Identifier: CA394884636
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154728C>A , CM000678.2:g.16154728C>A GRCh38
NC_000016.9:g.16248585C>A , CM000678.1:g.16248585C>A GRCh37
NC_000016.8:g.16156086C>A NCBI36
NG_007558.2:g.73744G>T
NG_007558.3:g.73890G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*280G>T ENSP00000483331.2:n.*280G>T
ENST00000205557.12:c.4108G>T MANE Select ENSP00000205557.7:p.Ala1370Ser
ENST00000640696.1:c.922G>T ENSP00000492197.1:p.Ala308Ser
ENST00000205557.11:c.4108G>T ENSP00000205557.7:p.Ala1370Ser
ENST00000456970.6:c.3733G>T ENSP00000405002.2:n.3733G>T
ENST00000576204.5:n.971G>T
ENST00000622290.4:c.*1317G>T ENSP00000483331.1:n.*1317G>T
NM_001171.5:c.4108G>T NP_001162.4:p.Ala1370Ser
XM_011522479.1:c.4075G>T XP_011520781.1:p.Ala1359Ser
XM_011522480.1:c.3766G>T XP_011520782.1:p.Ala1256Ser
XM_011522481.1:c.3766G>T XP_011520783.1:p.Ala1256Ser
XR_933134.1:n.539-5053C>A
NM_001351800.1:c.3766G>T NP_001338729.1:p.Ala1256Ser
NR_147784.1:n.3770G>T
XM_011522479.2:c.4075G>T XP_011520781.1:p.Ala1359Ser
XM_011522481.3:c.3766G>T XP_011520783.1:p.Ala1256Ser
XM_017023212.1:c.3940G>T XP_016878701.1:p.Ala1314Ser
XM_024450261.1:c.4144G>T XP_024306029.1:p.Ala1382Ser
NM_001171.6:c.4108G>T MANE Select NP_001162.5:p.Ala1370Ser