Canonical Allele Identifier: CA394876244
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155021A>T , CM000678.2:g.16155021A>T GRCh38
NC_000016.9:g.16248878A>T , CM000678.1:g.16248878A>T GRCh37
NC_000016.8:g.16156379A>T NCBI36
NG_007558.2:g.73451T>A
NG_007558.3:g.73597T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.756T>A
ENST00000622290.5:c.*65T>A ENSP00000483331.2:n.*65T>A
ENST00000205557.12:c.3893T>A MANE Select ENSP00000205557.7:p.Val1298Asp
ENST00000640696.1:c.707T>A ENSP00000492197.1:p.Val236Asp
ENST00000205557.11:c.3893T>A ENSP00000205557.7:p.Val1298Asp
ENST00000456970.6:c.3518T>A ENSP00000405002.2:n.3518T>A
ENST00000576204.5:n.756T>A
ENST00000622290.4:c.*1102T>A ENSP00000483331.1:n.*1102T>A
NM_001171.5:c.3893T>A NP_001162.4:p.Val1298Asp
XM_011522479.1:c.3860T>A XP_011520781.1:p.Val1287Asp
XM_011522480.1:c.3551T>A XP_011520782.1:p.Val1184Asp
XM_011522481.1:c.3551T>A XP_011520783.1:p.Val1184Asp
XR_932836.1:n.4191T>A
XR_932837.1:n.3929T>A
XR_932838.1:n.3992T>A
XR_933134.1:n.539-4760A>T
NM_001351800.1:c.3551T>A NP_001338729.1:p.Val1184Asp
NR_147784.1:n.3555T>A
XM_011522479.2:c.3860T>A XP_011520781.1:p.Val1287Asp
XM_011522481.3:c.3551T>A XP_011520783.1:p.Val1184Asp
XM_017023212.1:c.3725T>A XP_016878701.1:p.Val1242Asp
XM_024450261.1:c.3929T>A XP_024306029.1:p.Val1310Asp
XR_932836.2:n.4137T>A
XR_932837.3:n.3874T>A
XR_932838.3:n.3937T>A
NM_001171.6:c.3893T>A MANE Select NP_001162.5:p.Val1298Asp