Canonical Allele Identifier: CA394884698
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154743C>T , CM000678.2:g.16154743C>T GRCh38
NC_000016.9:g.16248600C>T , CM000678.1:g.16248600C>T GRCh37
NC_000016.8:g.16156101C>T NCBI36
NG_007558.2:g.73729G>A
NG_007558.3:g.73875G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.956G>A
ENST00000622290.5:c.*265G>A ENSP00000483331.2:n.*265G>A
ENST00000205557.12:c.4093G>A MANE Select ENSP00000205557.7:p.Glu1365Lys
ENST00000640696.1:c.907G>A ENSP00000492197.1:p.Glu303Lys
ENST00000205557.11:c.4093G>A ENSP00000205557.7:p.Glu1365Lys
ENST00000456970.6:c.3718G>A ENSP00000405002.2:n.3718G>A
ENST00000576204.5:n.956G>A
ENST00000622290.4:c.*1302G>A ENSP00000483331.1:n.*1302G>A
NM_001171.5:c.4093G>A NP_001162.4:p.Glu1365Lys
XM_011522479.1:c.4060G>A XP_011520781.1:p.Glu1354Lys
XM_011522480.1:c.3751G>A XP_011520782.1:p.Glu1251Lys
XM_011522481.1:c.3751G>A XP_011520783.1:p.Glu1251Lys
XR_933134.1:n.539-5038C>T
NM_001351800.1:c.3751G>A NP_001338729.1:p.Glu1251Lys
NR_147784.1:n.3755G>A
XM_011522479.2:c.4060G>A XP_011520781.1:p.Glu1354Lys
XM_011522481.3:c.3751G>A XP_011520783.1:p.Glu1251Lys
XM_017023212.1:c.3925G>A XP_016878701.1:p.Glu1309Lys
XM_024450261.1:c.4129G>A XP_024306029.1:p.Glu1377Lys
NM_001171.6:c.4093G>A MANE Select NP_001162.5:p.Glu1365Lys