Canonical Allele Identifier: CA493797479
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16248877A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155020A>T , CM000678.2:g.16155020A>T GRCh38
NC_000016.9:g.16248877A>T , CM000678.1:g.16248877A>T GRCh37
NC_000016.8:g.16156378A>T NCBI36
NG_007558.2:g.73452T>A
NG_007558.3:g.73598T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.757T>A
ENST00000622290.5:c.*66T>A ENSP00000483331.2:n.*66T>A
ENST00000205557.12:c.3894T>A MANE Select ENSP00000205557.7:p.Val1298=
ENST00000640696.1:c.708T>A ENSP00000492197.1:p.Val236=
ENST00000205557.11:c.3894T>A ENSP00000205557.7:p.Val1298=
ENST00000456970.6:c.3519T>A ENSP00000405002.2:n.3519T>A
ENST00000576204.5:n.757T>A
ENST00000622290.4:c.*1103T>A ENSP00000483331.1:n.*1103T>A
NM_001171.5:c.3894T>A NP_001162.4:p.Val1298=
XM_011522479.1:c.3861T>A XP_011520781.1:p.Val1287=
XM_011522480.1:c.3552T>A XP_011520782.1:p.Val1184=
XM_011522481.1:c.3552T>A XP_011520783.1:p.Val1184=
XR_932836.1:n.4192T>A
XR_932837.1:n.3930T>A
XR_932838.1:n.3993T>A
XR_933134.1:n.539-4761A>T
NM_001351800.1:c.3552T>A NP_001338729.1:p.Val1184=
NR_147784.1:n.3556T>A
XM_011522479.2:c.3861T>A XP_011520781.1:p.Val1287=
XM_011522481.3:c.3552T>A XP_011520783.1:p.Val1184=
XM_017023212.1:c.3726T>A XP_016878701.1:p.Val1242=
XM_024450261.1:c.3930T>A XP_024306029.1:p.Val1310=
XR_932836.2:n.4138T>A
XR_932837.3:n.3875T>A
XR_932838.3:n.3938T>A
NM_001171.6:c.3894T>A MANE Select NP_001162.5:p.Val1298=