Canonical Allele Identifier: CA493799356
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16263543G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16169686G>C , CM000678.2:g.16169686G>C GRCh38
NC_000016.9:g.16263543G>C , CM000678.1:g.16263543G>C GRCh37
NC_000016.8:g.16171044G>C NCBI36
NG_007558.2:g.58786C>G
NG_007558.3:g.58932C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2955C>G ENSP00000483331.2:p.Ala985=
ENST00000205557.12:c.2955C>G MANE Select ENSP00000205557.7:p.Ala985=
ENST00000205557.11:c.2955C>G ENSP00000205557.7:p.Ala985=
ENST00000456970.6:c.2780C>G ENSP00000405002.2:n.2780C>G
ENST00000622290.4:c.*164C>G ENSP00000483331.1:n.*164C>G
NM_001171.5:c.2955C>G NP_001162.4:p.Ala985=
XM_011522479.1:c.2922C>G XP_011520781.1:p.Ala974=
XM_011522480.1:c.2613C>G XP_011520782.1:p.Ala871=
XM_011522481.1:c.2613C>G XP_011520783.1:p.Ala871=
XR_932836.1:n.3190C>G
XR_932837.1:n.3191C>G
XR_932838.1:n.3191C>G
NM_001351800.1:c.2613C>G NP_001338729.1:p.Ala871=
NR_147784.1:n.2817C>G
XM_011522479.2:c.2922C>G XP_011520781.1:p.Ala974=
XM_011522481.3:c.2613C>G XP_011520783.1:p.Ala871=
XM_017023212.1:c.2787C>G XP_016878701.1:p.Ala929=
XM_017023214.1:c.2955C>G XP_016878703.1:p.Ala985=
XM_024450261.1:c.2991C>G XP_024306029.1:p.Ala997=
XR_932836.2:n.3136C>G
XR_932837.3:n.3136C>G
XR_932838.3:n.3136C>G
NM_001171.6:c.2955C>G MANE Select NP_001162.5:p.Ala985=