Canonical Allele Identifier: CA493797201
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16248760T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154903T>A , CM000678.2:g.16154903T>A GRCh38
NC_000016.9:g.16248760T>A , CM000678.1:g.16248760T>A GRCh37
NC_000016.8:g.16156261T>A NCBI36
NG_007558.2:g.73569A>T
NG_007558.3:g.73715A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.874A>T
ENST00000622290.5:c.*183A>T ENSP00000483331.2:n.*183A>T
ENST00000205557.12:c.4011A>T MANE Select ENSP00000205557.7:p.Thr1337=
ENST00000640696.1:c.825A>T ENSP00000492197.1:p.Thr275=
ENST00000205557.11:c.4011A>T ENSP00000205557.7:p.Thr1337=
ENST00000456970.6:c.3636A>T ENSP00000405002.2:n.3636A>T
ENST00000576204.5:n.874A>T
ENST00000622290.4:c.*1220A>T ENSP00000483331.1:n.*1220A>T
NM_001171.5:c.4011A>T NP_001162.4:p.Thr1337=
XM_011522479.1:c.3978A>T XP_011520781.1:p.Thr1326=
XM_011522480.1:c.3669A>T XP_011520782.1:p.Thr1223=
XM_011522481.1:c.3669A>T XP_011520783.1:p.Thr1223=
XR_933134.1:n.539-4878T>A
NM_001351800.1:c.3669A>T NP_001338729.1:p.Thr1223=
NR_147784.1:n.3673A>T
XM_011522479.2:c.3978A>T XP_011520781.1:p.Thr1326=
XM_011522481.3:c.3669A>T XP_011520783.1:p.Thr1223=
XM_017023212.1:c.3843A>T XP_016878701.1:p.Thr1281=
XM_024450261.1:c.4047A>T XP_024306029.1:p.Thr1349=
NM_001171.6:c.4011A>T MANE Select NP_001162.5:p.Thr1337=