Canonical Allele Identifier: CA394875656
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154940A>T , CM000678.2:g.16154940A>T GRCh38
NC_000016.9:g.16248797A>T , CM000678.1:g.16248797A>T GRCh37
NC_000016.8:g.16156298A>T NCBI36
NG_007558.2:g.73532T>A
NG_007558.3:g.73678T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.837T>A
ENST00000622290.5:c.*146T>A ENSP00000483331.2:n.*146T>A
ENST00000205557.12:c.3974T>A MANE Select ENSP00000205557.7:p.Ile1325Asn
ENST00000640696.1:c.788T>A ENSP00000492197.1:p.Ile263Asn
ENST00000205557.11:c.3974T>A ENSP00000205557.7:p.Ile1325Asn
ENST00000456970.6:c.3599T>A ENSP00000405002.2:n.3599T>A
ENST00000576204.5:n.837T>A
ENST00000622290.4:c.*1183T>A ENSP00000483331.1:n.*1183T>A
NM_001171.5:c.3974T>A NP_001162.4:p.Ile1325Asn
XM_011522479.1:c.3941T>A XP_011520781.1:p.Ile1314Asn
XM_011522480.1:c.3632T>A XP_011520782.1:p.Ile1211Asn
XM_011522481.1:c.3632T>A XP_011520783.1:p.Ile1211Asn
XR_933134.1:n.539-4841A>T
NM_001351800.1:c.3632T>A NP_001338729.1:p.Ile1211Asn
NR_147784.1:n.3636T>A
XM_011522479.2:c.3941T>A XP_011520781.1:p.Ile1314Asn
XM_011522481.3:c.3632T>A XP_011520783.1:p.Ile1211Asn
XM_017023212.1:c.3806T>A XP_016878701.1:p.Ile1269Asn
XM_024450261.1:c.4010T>A XP_024306029.1:p.Ile1337Asn
NM_001171.6:c.3974T>A MANE Select NP_001162.5:p.Ile1325Asn