Canonical Allele Identifier: CA493798028
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16253375C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16159518C>G , CM000678.2:g.16159518C>G GRCh38
NC_000016.9:g.16253375C>G , CM000678.1:g.16253375C>G GRCh37
NC_000016.8:g.16160876C>G NCBI36
NG_007558.2:g.68954G>C
NG_007558.3:g.69100G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000622290.5:c.3699G>C ENSP00000483331.2:p.Val1233=
ENST00000205557.12:c.3699G>C MANE Select ENSP00000205557.7:p.Val1233=
ENST00000640696.1:c.513G>C ENSP00000492197.1:p.Val171=
ENST00000205557.11:c.3699G>C ENSP00000205557.7:p.Val1233=
ENST00000456970.6:c.3324G>C ENSP00000405002.2:n.3324G>C
ENST00000622290.4:c.*908G>C ENSP00000483331.1:n.*908G>C
NM_001171.5:c.3699G>C NP_001162.4:p.Val1233=
XM_011522479.1:c.3666G>C XP_011520781.1:p.Val1222=
XM_011522480.1:c.3357G>C XP_011520782.1:p.Val1119=
XM_011522481.1:c.3357G>C XP_011520783.1:p.Val1119=
XR_932836.1:n.3934G>C
XR_932837.1:n.3735G>C
XR_932838.1:n.3735G>C
XR_933134.1:n.539-263C>G
NM_001351800.1:c.3357G>C NP_001338729.1:p.Val1119=
NR_147784.1:n.3361G>C
XM_011522479.2:c.3666G>C XP_011520781.1:p.Val1222=
XM_011522481.3:c.3357G>C XP_011520783.1:p.Val1119=
XM_017023212.1:c.3531G>C XP_016878701.1:p.Val1177=
XM_024450261.1:c.3735G>C XP_024306029.1:p.Val1245=
XR_932836.2:n.3880G>C
XR_932837.3:n.3680G>C
XR_932838.3:n.3680G>C
NM_001171.6:c.3699G>C MANE Select NP_001162.5:p.Val1233=