Canonical Allele Identifier: CA493799265
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16244056G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150199G>A , CM000678.2:g.16150199G>A GRCh38
NC_000016.9:g.16244056G>A , CM000678.1:g.16244056G>A GRCh37
NC_000016.8:g.16151557G>A NCBI36
NG_007558.2:g.78273C>T
NG_007558.3:g.78419C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*618C>T ENSP00000483331.2:n.*618C>T
ENST00000205557.12:c.4446C>T MANE Select ENSP00000205557.7:p.Ser1482=
ENST00000640696.1:c.1260C>T ENSP00000492197.1:p.Ser420=
ENST00000205557.11:c.4446C>T ENSP00000205557.7:p.Ser1482=
ENST00000456970.6:c.4071C>T ENSP00000405002.2:n.4071C>T
ENST00000576204.5:n.1309C>T
ENST00000622290.4:c.*1655C>T ENSP00000483331.1:n.*1655C>T
NM_001171.5:c.4446C>T NP_001162.4:p.Ser1482=
XM_011522479.1:c.4413C>T XP_011520781.1:p.Ser1471=
XM_011522480.1:c.4104C>T XP_011520782.1:p.Ser1368=
XM_011522481.1:c.4104C>T XP_011520783.1:p.Ser1368=
XR_933134.1:n.538+5909G>A
NM_001351800.1:c.4104C>T NP_001338729.1:p.Ser1368=
NR_147784.1:n.4108C>T
XM_011522479.2:c.4413C>T XP_011520781.1:p.Ser1471=
XM_011522481.3:c.4104C>T XP_011520783.1:p.Ser1368=
XM_017023212.1:c.4278C>T XP_016878701.1:p.Ser1426=
XM_024450261.1:c.4482C>T XP_024306029.1:p.Ser1494=
NM_001171.6:c.4446C>T MANE Select NP_001162.5:p.Ser1482=