Canonical Allele Identifier: CA494088276
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16259516G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16165659G>T , CM000678.2:g.16165659G>T GRCh38
NC_000016.9:g.16259516G>T , CM000678.1:g.16259516G>T GRCh37
NC_000016.8:g.16167017G>T NCBI36
NG_007558.2:g.62813C>A
NG_007558.3:g.62959C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3270C>A ENSP00000483331.2:p.Ala1090=
ENST00000205557.12:c.3270C>A MANE Select ENSP00000205557.7:p.Ala1090=
ENST00000640696.1:c.284C>A ENSP00000492197.1:p.Pro95Gln
ENST00000205557.11:c.3270C>A ENSP00000205557.7:p.Ala1090=
ENST00000456970.6:c.3095C>A ENSP00000405002.2:n.3095C>A
ENST00000622290.4:c.*479C>A ENSP00000483331.1:n.*479C>A
NM_001171.5:c.3270C>A NP_001162.4:p.Ala1090=
XM_011522479.1:c.3237C>A XP_011520781.1:p.Ala1079=
XM_011522480.1:c.2928C>A XP_011520782.1:p.Ala976=
XM_011522481.1:c.2928C>A XP_011520783.1:p.Ala976=
XR_932836.1:n.3505C>A
XR_932837.1:n.3506C>A
XR_932838.1:n.3506C>A
NM_001351800.1:c.2928C>A NP_001338729.1:p.Ala976=
NR_147784.1:n.3132C>A
XM_011522479.2:c.3237C>A XP_011520781.1:p.Ala1079=
XM_011522481.3:c.2928C>A XP_011520783.1:p.Ala976=
XM_017023212.1:c.3102C>A XP_016878701.1:p.Ala1034=
XM_017023214.1:c.3270C>A XP_016878703.1:p.Ala1090=
XM_024450261.1:c.3306C>A XP_024306029.1:p.Ala1102=
XR_932836.2:n.3451C>A
XR_932837.3:n.3451C>A
XR_932838.3:n.3451C>A
NM_001171.6:c.3270C>A MANE Select NP_001162.5:p.Ala1090=