Canonical Allele Identifier: CA394876216
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16248873T>A (hg19) chr16:g.16155016T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155016T>A , CM000678.2:g.16155016T>A GRCh38
NC_000016.9:g.16248873T>A , CM000678.1:g.16248873T>A GRCh37
NC_000016.8:g.16156374T>A NCBI36
NG_007558.2:g.73456A>T
NG_007558.3:g.73602A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.761A>T
ENST00000622290.5:c.*70A>T ENSP00000483331.2:n.*70A>T
ENST00000205557.12:c.3898A>T MANE Select ENSP00000205557.7:p.Arg1300Trp
ENST00000640696.1:c.712A>T ENSP00000492197.1:p.Arg238Trp
ENST00000205557.11:c.3898A>T ENSP00000205557.7:p.Arg1300Trp
ENST00000456970.6:c.3523A>T ENSP00000405002.2:n.3523A>T
ENST00000576204.5:n.761A>T
ENST00000622290.4:c.*1107A>T ENSP00000483331.1:n.*1107A>T
NM_001171.5:c.3898A>T NP_001162.4:p.Arg1300Trp
XM_011522479.1:c.3865A>T XP_011520781.1:p.Arg1289Trp
XM_011522480.1:c.3556A>T XP_011520782.1:p.Arg1186Trp
XM_011522481.1:c.3556A>T XP_011520783.1:p.Arg1186Trp
XR_932836.1:n.4196A>T
XR_932837.1:n.3934A>T
XR_932838.1:n.3997A>T
XR_933134.1:n.539-4765T>A
NM_001351800.1:c.3556A>T NP_001338729.1:p.Arg1186Trp
NR_147784.1:n.3560A>T
XM_011522479.2:c.3865A>T XP_011520781.1:p.Arg1289Trp
XM_011522481.3:c.3556A>T XP_011520783.1:p.Arg1186Trp
XM_017023212.1:c.3730A>T XP_016878701.1:p.Arg1244Trp
XM_024450261.1:c.3934A>T XP_024306029.1:p.Arg1312Trp
XR_932836.2:n.4142A>T
XR_932837.3:n.3879A>T
XR_932838.3:n.3942A>T
NM_001171.6:c.3898A>T MANE Select NP_001162.5:p.Arg1300Trp
Search 100 bp 5'
Search 100 bp 3'