Canonical Allele Identifier: CA150651
Gene: ABCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 6560
dbSNP Id: rs72664209

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16173283C>A , CM000678.2:g.16173283C>A GRCh38
NC_000016.9:g.16267140C>A , CM000678.1:g.16267140C>A GRCh37
NC_000016.8:g.16174641C>A NCBI36
NG_007558.2:g.55189G>T
NG_007558.3:g.55335G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.2787+1G>T ENSP00000483331.2:n.2787+1G>T
ENST00000205557.12:c.2787+1G>T MANE Select ENSP00000205557.7:n.2787+1G>T
ENST00000205557.11:c.2787+1G>T ENSP00000205557.7:n.2787+1G>T
ENST00000456970.6:c.2612+1G>T ENSP00000405002.2:n.2612+1G>T
ENST00000576683.1:n.275G>T
ENST00000622290.4:c.2612+1G>T ENSP00000483331.1:n.2612+1G>T
NM_001171.5:c.2787+1G>T NP_001162.4:n.2787+1G>T
XM_011522479.1:c.2754+1G>T XP_011520781.1:n.2754+1G>T
XM_011522480.1:c.2445+1G>T XP_011520782.1:n.2445+1G>T
XM_011522481.1:c.2445+1G>T XP_011520783.1:n.2445+1G>T
XR_932836.1:n.3022+1G>T
XR_932837.1:n.3023+1G>T
XR_932838.1:n.3023+1G>T
NM_001351800.1:c.2445+1G>T NP_001338729.1:n.2445+1G>T
NR_147784.1:n.2649+1G>T
XM_011522479.2:c.2754+1G>T XP_011520781.1:n.2754+1G>T
XM_011522481.3:c.2445+1G>T XP_011520783.1:n.2445+1G>T
XM_017023212.1:c.2619+1G>T XP_016878701.1:n.2619+1G>T
XM_017023214.1:c.2787+1G>T XP_016878703.1:n.2787+1G>T
XM_024450261.1:c.2823+1G>T XP_024306029.1:n.2823+1G>T
XR_932836.2:n.2968+1G>T
XR_932837.3:n.2968+1G>T
XR_932838.3:n.2968+1G>T
NM_001171.6:c.2787+1G>T MANE Select NP_001162.5:n.2787+1G>T