Canonical Allele Identifier: CA493799577
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16244599T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150742T>G , CM000678.2:g.16150742T>G GRCh38
NC_000016.9:g.16244599T>G , CM000678.1:g.16244599T>G GRCh37
NC_000016.8:g.16152100T>G NCBI36
NG_007558.2:g.77730A>C
NG_007558.3:g.77876A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*411A>C ENSP00000483331.2:n.*411A>C
ENST00000205557.12:c.4239A>C MANE Select ENSP00000205557.7:p.Ala1413=
ENST00000640696.1:c.1053A>C ENSP00000492197.1:p.Ala351=
ENST00000205557.11:c.4239A>C ENSP00000205557.7:p.Ala1413=
ENST00000456970.6:c.3864A>C ENSP00000405002.2:n.3864A>C
ENST00000576204.5:n.1102A>C
ENST00000622290.4:c.*1448A>C ENSP00000483331.1:n.*1448A>C
NM_001171.5:c.4239A>C NP_001162.4:p.Ala1413=
XM_011522479.1:c.4206A>C XP_011520781.1:p.Ala1402=
XM_011522480.1:c.3897A>C XP_011520782.1:p.Ala1299=
XM_011522481.1:c.3897A>C XP_011520783.1:p.Ala1299=
XR_933134.1:n.538+6452T>G
NM_001351800.1:c.3897A>C NP_001338729.1:p.Ala1299=
NR_147784.1:n.3901A>C
XM_011522479.2:c.4206A>C XP_011520781.1:p.Ala1402=
XM_011522481.3:c.3897A>C XP_011520783.1:p.Ala1299=
XM_017023212.1:c.4071A>C XP_016878701.1:p.Ala1357=
XM_024450261.1:c.4275A>C XP_024306029.1:p.Ala1425=
NM_001171.6:c.4239A>C MANE Select NP_001162.5:p.Ala1413=