Canonical Allele Identifier: CA493800879
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16292015T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16198158T>G , CM000678.2:g.16198158T>G GRCh38
NC_000016.9:g.16292015T>G , CM000678.1:g.16292015T>G GRCh37
NC_000016.8:g.16199516T>G NCBI36
NG_007558.2:g.30314A>C
NG_007558.3:g.30460A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.1201A>C ENSP00000507301.1:p.Arg401=
ENST00000622290.5:c.1201A>C ENSP00000483331.2:p.Arg401=
ENST00000205557.12:c.1201A>C MANE Select ENSP00000205557.7:p.Arg401=
ENST00000205557.11:c.1201A>C ENSP00000205557.7:p.Arg401=
ENST00000456970.6:c.1201A>C ENSP00000405002.2:p.Arg401=
ENST00000574094.5:n.1297A>C
ENST00000622290.4:c.1201A>C ENSP00000483331.1:p.Arg401=
NM_001171.5:c.1201A>C NP_001162.4:p.Arg401=
XM_011522479.1:c.1201A>C XP_011520781.1:p.Arg401=
XM_011522480.1:c.859A>C XP_011520782.1:p.Arg287=
XM_011522481.1:c.859A>C XP_011520783.1:p.Arg287=
XM_011522482.1:c.1201A>C XP_011520784.1:p.Arg401=
XR_932836.1:n.1436A>C
XR_932837.1:n.1437A>C
XR_932838.1:n.1437A>C
NM_001351800.1:c.859A>C NP_001338729.1:p.Arg287=
NR_147784.1:n.1238A>C
XM_011522479.2:c.1201A>C XP_011520781.1:p.Arg401=
XM_011522481.3:c.859A>C XP_011520783.1:p.Arg287=
XM_011522482.3:c.1201A>C XP_011520784.1:p.Arg401=
XM_017023212.1:c.1201A>C XP_016878701.1:p.Arg401=
XM_017023214.1:c.1201A>C XP_016878703.1:p.Arg401=
XM_024450261.1:c.1237A>C XP_024306029.1:p.Arg413=
XR_932836.2:n.1382A>C
XR_932837.3:n.1382A>C
XR_932838.3:n.1382A>C
NM_001171.6:c.1201A>C MANE Select NP_001162.5:p.Arg401=