Canonical Allele Identifier: CA493799424
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16244470A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150613A>T , CM000678.2:g.16150613A>T GRCh38
NC_000016.9:g.16244470A>T , CM000678.1:g.16244470A>T GRCh37
NC_000016.8:g.16151971A>T NCBI36
NG_007558.2:g.77859T>A
NG_007558.3:g.78005T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000622290.5:c.*540T>A ENSP00000483331.2:n.*540T>A
ENST00000205557.12:c.4368T>A MANE Select ENSP00000205557.7:p.Ile1456=
ENST00000640696.1:c.1182T>A ENSP00000492197.1:p.Ile394=
ENST00000205557.11:c.4368T>A ENSP00000205557.7:p.Ile1456=
ENST00000456970.6:c.3993T>A ENSP00000405002.2:n.3993T>A
ENST00000576204.5:n.1231T>A
ENST00000622290.4:c.*1577T>A ENSP00000483331.1:n.*1577T>A
NM_001171.5:c.4368T>A NP_001162.4:p.Ile1456=
XM_011522479.1:c.4335T>A XP_011520781.1:p.Ile1445=
XM_011522480.1:c.4026T>A XP_011520782.1:p.Ile1342=
XM_011522481.1:c.4026T>A XP_011520783.1:p.Ile1342=
XR_933134.1:n.538+6323A>T
NM_001351800.1:c.4026T>A NP_001338729.1:p.Ile1342=
NR_147784.1:n.4030T>A
XM_011522479.2:c.4335T>A XP_011520781.1:p.Ile1445=
XM_011522481.3:c.4026T>A XP_011520783.1:p.Ile1342=
XM_017023212.1:c.4200T>A XP_016878701.1:p.Ile1400=
XM_024450261.1:c.4404T>A XP_024306029.1:p.Ile1468=
NM_001171.6:c.4368T>A MANE Select NP_001162.5:p.Ile1456=