Canonical Allele Identifier: CA158227744

Linked Data

dbSNP Id: rs1451371
gnomAD v2: 7-50553051-T-C
gnomAD v3: 7-50485353-T-C
gnomAD v4: 7-50485353-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50485353T>C , CM000669.2:g.50485353T>C GRCh38
NC_000007.13:g.50553051T>C , CM000669.1:g.50553051T>C GRCh37
NC_000007.12:g.50520545T>C NCBI36
NG_008742.1:g.85104A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.945-5490A>G (DDC) MANE Select ENSP00000403644.2:n.945-5490A>G
ENST00000357936.9:c.945-5490A>G (DDC) ENSP00000350616.5:n.945-5490A>G
ENST00000426377.5:c.711-5490A>G (DDC) ENSP00000395069.1:n.711-5490A>G
ENST00000430300.5:c.587-5490A>G (DDC)
ENST00000431062.5:c.666-5490A>G (DDC) ENSP00000399184.1:n.666-5490A>G
ENST00000444124.6:c.945-5490A>G (DDC) ENSP00000403644.2:n.945-5490A>G
ENST00000444733.5:c.*46-5490A>G (DDC) ENSP00000393724.1:n.*46-5490A>G
ENST00000613602.3:c.-10-38056A>G (FIGNL1) ENSP00000481751.1:n.-10-38056A>G
ENST00000615193.4:c.666-5490A>G (DDC) ENSP00000484104.1:n.666-5490A>G
ENST00000617822.4:c.801-5490A>G (DDC) ENSP00000478385.1:n.801-5490A>G
ENST00000622873.4:c.831-5490A>G (DDC) ENSP00000479110.1:n.831-5490A>G
NM_000790.3:c.945-5490A>G (DDC) NP_000781.1:n.945-5490A>G
NM_001082971.1:c.945-5490A>G (DDC) NP_001076440.1:n.945-5490A>G
NM_001242886.1:c.831-5490A>G (DDC) NP_001229815.1:n.831-5490A>G
NM_001242887.1:c.801-5490A>G (DDC) NP_001229816.1:n.801-5490A>G
NM_001242888.1:c.711-5490A>G (DDC) NP_001229817.1:n.711-5490A>G
NM_001242889.1:c.666-5490A>G (DDC) NP_001229818.1:n.666-5490A>G
XM_005271745.3:c.831-5490A>G (DDC) XP_005271802.1:n.831-5490A>G
XM_011515161.1:c.594-5490A>G (DDC) XP_011513463.1:n.594-5490A>G
XM_005271745.4:c.831-5490A>G (DDC) XP_005271802.1:n.831-5490A>G
XM_011515161.2:c.888-5490A>G (DDC) XP_011513463.2:n.888-5490A>G
NM_001082971.2:c.945-5490A>G (DDC) MANE Select NP_001076440.2:n.945-5490A>G
NM_000790.4:c.945-5490A>G (DDC) NP_000781.2:n.945-5490A>G
NM_001242888.2:c.711-5490A>G (DDC) NP_001229817.2:n.711-5490A>G
NM_001242886.2:c.831-5490A>G (DDC) NP_001229815.2:n.831-5490A>G
NM_001242887.2:c.801-5490A>G (DDC) NP_001229816.2:n.801-5490A>G
NM_001242889.2:c.666-5490A>G (DDC) NP_001229818.2:n.666-5490A>G