Canonical Allele Identifier: CA367538169

Linked Data

gnomAD v4: 7-50495413-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50495413G>A , CM000669.2:g.50495413G>A GRCh38
NC_000007.13:g.50563111G>A , CM000669.1:g.50563111G>A GRCh37
NC_000007.12:g.50530605G>A NCBI36
NG_008742.1:g.75044C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000444124.7:c.881C>T (DDC) MANE Select ENSP00000403644.2:p.Ala294Val
ENST00000357936.9:c.881C>T (DDC) ENSP00000350616.5:p.Ala294Val
ENST00000380984.4:c.881C>T (DDC) ENSP00000370371.4:p.Ala294Val
ENST00000426377.5:c.647C>T (DDC) ENSP00000395069.1:p.Ala216Val
ENST00000430300.5:c.523C>T (DDC)
ENST00000431062.5:c.602C>T (DDC) ENSP00000399184.1:p.Ala201Val
ENST00000444124.6:c.881C>T (DDC) ENSP00000403644.2:p.Ala294Val
ENST00000444733.5:c.672C>T (DDC) ENSP00000393724.1:p.Cys224=
ENST00000613602.3:c.-11+47105C>T (FIGNL1) ENSP00000481751.1:n.-11+47105C>T
ENST00000615193.4:c.602C>T (DDC) ENSP00000484104.1:p.Ala201Val
ENST00000617822.4:c.737C>T (DDC) ENSP00000478385.1:p.Ala246Val
ENST00000622873.4:c.767C>T (DDC) ENSP00000479110.1:p.Ala256Val
NM_000790.3:c.881C>T (DDC) NP_000781.1:p.Ala294Val
NM_001082971.1:c.881C>T (DDC) NP_001076440.1:p.Ala294Val
NM_001242886.1:c.767C>T (DDC) NP_001229815.1:p.Ala256Val
NM_001242887.1:c.737C>T (DDC) NP_001229816.1:p.Ala246Val
NM_001242888.1:c.647C>T (DDC) NP_001229817.1:p.Ala216Val
NM_001242889.1:c.602C>T (DDC) NP_001229818.1:p.Ala201Val
NM_001242890.1:c.881C>T (DDC) NP_001229819.1:p.Ala294Val
XM_005271745.3:c.767C>T (DDC) XP_005271802.1:p.Ala256Val
XM_011515161.1:c.530C>T (DDC) XP_011513463.1:p.Ala177Val
XM_005271745.4:c.767C>T (DDC) XP_005271802.1:p.Ala256Val
XM_011515161.2:c.824C>T (DDC) XP_011513463.2:p.Ala275Val
NM_001082971.2:c.881C>T (DDC) MANE Select NP_001076440.2:p.Ala294Val
NM_000790.4:c.881C>T (DDC) NP_000781.2:p.Ala294Val
NM_001242888.2:c.647C>T (DDC) NP_001229817.2:p.Ala216Val
NM_001242890.2:c.881C>T (DDC) NP_001229819.2:p.Ala294Val
NM_001242886.2:c.767C>T (DDC) NP_001229815.2:p.Ala256Val
NM_001242887.2:c.737C>T (DDC) NP_001229816.2:p.Ala246Val
NM_001242889.2:c.602C>T (DDC) NP_001229818.2:p.Ala201Val