Canonical Allele Identifier: CA1706624206

Linked Data

dbSNP Id: rs11575461

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50479485G>C , CM000669.2:g.50479485G>C GRCh38
NC_000007.13:g.50547183G>C , CM000669.1:g.50547183G>C GRCh37
NC_000007.12:g.50514677G>C NCBI36
NG_008742.1:g.90972C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.1021+302C>G (DDC) MANE Select ENSP00000403644.2:n.1021+302C>G
ENST00000357936.9:c.1021+302C>G (DDC) ENSP00000350616.5:n.1021+302C>G
ENST00000426377.5:c.787+302C>G (DDC) ENSP00000395069.1:n.787+302C>G
ENST00000430300.5:c.663+302C>G (DDC)
ENST00000431062.5:c.742+302C>G (DDC) ENSP00000399184.1:n.742+302C>G
ENST00000444124.6:c.1021+302C>G (DDC) ENSP00000403644.2:n.1021+302C>G
ENST00000444733.5:c.*122+302C>G (DDC) ENSP00000393724.1:n.*122+302C>G
ENST00000494914.1:n.177+302C>G (DDC)
ENST00000613602.3:c.-10-32188C>G (FIGNL1) ENSP00000481751.1:n.-10-32188C>G
ENST00000615193.4:c.742+302C>G (DDC) ENSP00000484104.1:n.742+302C>G
ENST00000617822.4:c.877+302C>G (DDC) ENSP00000478385.1:n.877+302C>G
ENST00000622873.4:c.907+302C>G (DDC) ENSP00000479110.1:n.907+302C>G
NM_000790.3:c.1021+302C>G (DDC) NP_000781.1:n.1021+302C>G
NM_001082971.1:c.1021+302C>G (DDC) NP_001076440.1:n.1021+302C>G
NM_001242886.1:c.907+302C>G (DDC) NP_001229815.1:n.907+302C>G
NM_001242887.1:c.877+302C>G (DDC) NP_001229816.1:n.877+302C>G
NM_001242888.1:c.787+302C>G (DDC) NP_001229817.1:n.787+302C>G
NM_001242889.1:c.742+302C>G (DDC) NP_001229818.1:n.742+302C>G
XM_005271745.3:c.907+302C>G (DDC) XP_005271802.1:n.907+302C>G
XM_011515161.1:c.670+302C>G (DDC) XP_011513463.1:n.670+302C>G
XM_005271745.4:c.907+302C>G (DDC) XP_005271802.1:n.907+302C>G
XM_011515161.2:c.964+302C>G (DDC) XP_011513463.2:n.964+302C>G
NM_001082971.2:c.1021+302C>G (DDC) MANE Select NP_001076440.2:n.1021+302C>G
NM_000790.4:c.1021+302C>G (DDC) NP_000781.2:n.1021+302C>G
NM_001242888.2:c.787+302C>G (DDC) NP_001229817.2:n.787+302C>G
NM_001242886.2:c.907+302C>G (DDC) NP_001229815.2:n.907+302C>G
NM_001242887.2:c.877+302C>G (DDC) NP_001229816.2:n.877+302C>G
NM_001242889.2:c.742+302C>G (DDC) NP_001229818.2:n.742+302C>G