Canonical Allele Identifier: CA2573142181

Linked Data

ClinVar Variation Id: 1570420
ClinVar RCV Id: RCV002215358
dbSNP Id: rs2153538984

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50495427A>C , CM000669.2:g.50495427A>C GRCh38
NC_000007.13:g.50563125A>C , CM000669.1:g.50563125A>C GRCh37
NC_000007.12:g.50530619A>C NCBI36
NG_008742.1:g.75030T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.877-10T>G (DDC) MANE Select ENSP00000403644.2:n.877-10T>G
ENST00000357936.9:c.877-10T>G (DDC) ENSP00000350616.5:n.877-10T>G
ENST00000380984.4:c.877-10T>G (DDC) ENSP00000370371.4:n.877-10T>G
ENST00000426377.5:c.643-10T>G (DDC) ENSP00000395069.1:n.643-10T>G
ENST00000430300.5:c.519-10T>G (DDC)
ENST00000431062.5:c.598-10T>G (DDC) ENSP00000399184.1:n.598-10T>G
ENST00000444124.6:c.877-10T>G (DDC) ENSP00000403644.2:n.877-10T>G
ENST00000444733.5:c.668-10T>G (DDC) ENSP00000393724.1:n.668-10T>G
ENST00000613602.3:c.-11+47091T>G (FIGNL1) ENSP00000481751.1:n.-11+47091T>G
ENST00000615193.4:c.598-10T>G (DDC) ENSP00000484104.1:n.598-10T>G
ENST00000617822.4:c.733-10T>G (DDC) ENSP00000478385.1:n.733-10T>G
ENST00000622873.4:c.763-10T>G (DDC) ENSP00000479110.1:n.763-10T>G
NM_000790.3:c.877-10T>G (DDC) NP_000781.1:n.877-10T>G
NM_001082971.1:c.877-10T>G (DDC) NP_001076440.1:n.877-10T>G
NM_001242886.1:c.763-10T>G (DDC) NP_001229815.1:n.763-10T>G
NM_001242887.1:c.733-10T>G (DDC) NP_001229816.1:n.733-10T>G
NM_001242888.1:c.643-10T>G (DDC) NP_001229817.1:n.643-10T>G
NM_001242889.1:c.598-10T>G (DDC) NP_001229818.1:n.598-10T>G
NM_001242890.1:c.877-10T>G (DDC) NP_001229819.1:n.877-10T>G
XM_005271745.3:c.763-10T>G (DDC) XP_005271802.1:n.763-10T>G
XM_011515161.1:c.526-10T>G (DDC) XP_011513463.1:n.526-10T>G
XM_005271745.4:c.763-10T>G (DDC) XP_005271802.1:n.763-10T>G
XM_011515161.2:c.820-10T>G (DDC) XP_011513463.2:n.820-10T>G
NM_001082971.2:c.877-10T>G (DDC) MANE Select NP_001076440.2:n.877-10T>G
NM_000790.4:c.877-10T>G (DDC) NP_000781.2:n.877-10T>G
NM_001242888.2:c.643-10T>G (DDC) NP_001229817.2:n.643-10T>G
NM_001242890.2:c.877-10T>G (DDC) NP_001229819.2:n.877-10T>G
NM_001242886.2:c.763-10T>G (DDC) NP_001229815.2:n.763-10T>G
NM_001242887.2:c.733-10T>G (DDC) NP_001229816.2:n.733-10T>G
NM_001242889.2:c.598-10T>G (DDC) NP_001229818.2:n.598-10T>G