Canonical Allele Identifier: CA454938380

Linked Data

gnomAD v4: 7-50539840-G-A
MyVariant Identifiers: chr7:g.50607538G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.50539840G>A , CM000669.2:g.50539840G>A GRCh38
NC_000007.13:g.50607538G>A , CM000669.1:g.50607538G>A GRCh37
NC_000007.12:g.50575032G>A NCBI36
NG_008742.1:g.30617C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000444124.7:c.315+75C>T (DDC) MANE Select ENSP00000403644.2:n.315+75C>T
ENST00000357936.9:c.315+75C>T (DDC) ENSP00000350616.5:n.315+75C>T
ENST00000380984.4:c.315+75C>T (DDC) ENSP00000370371.4:n.315+75C>T
ENST00000426377.5:c.201+4045C>T (DDC) ENSP00000395069.1:n.201+4045C>T
ENST00000430300.5:c.212+75C>T (DDC)
ENST00000431062.5:c.315+75C>T (DDC) ENSP00000399184.1:n.315+75C>T
ENST00000444124.6:c.315+75C>T (DDC) ENSP00000403644.2:n.315+75C>T
ENST00000444733.5:c.202-1861C>T (DDC) ENSP00000393724.1:n.202-1861C>T
ENST00000489162.1:n.114+75C>T (DDC)
ENST00000613602.3:c.-11+2678C>T (FIGNL1) ENSP00000481751.1:n.-11+2678C>T
ENST00000615193.4:c.315+75C>T (DDC) ENSP00000484104.1:n.315+75C>T
ENST00000617822.4:c.315+75C>T (DDC) ENSP00000478385.1:n.315+75C>T
ENST00000622873.4:c.202-1861C>T (DDC) ENSP00000479110.1:n.202-1861C>T
NM_000790.3:c.315+75C>T (DDC) NP_000781.1:n.315+75C>T
NM_001082971.1:c.315+75C>T (DDC) NP_001076440.1:n.315+75C>T
NM_001242886.1:c.202-1861C>T (DDC) NP_001229815.1:n.202-1861C>T
NM_001242887.1:c.315+75C>T (DDC) NP_001229816.1:n.315+75C>T
NM_001242888.1:c.201+4045C>T (DDC) NP_001229817.1:n.201+4045C>T
NM_001242889.1:c.315+75C>T (DDC) NP_001229818.1:n.315+75C>T
NM_001242890.1:c.315+75C>T (DDC) NP_001229819.1:n.315+75C>T
NR_033845.1:n.188G>A (DDC-AS1)
XM_005271745.3:c.202-1861C>T (DDC) XP_005271802.1:n.202-1861C>T
XM_005271745.4:c.202-1861C>T (DDC) XP_005271802.1:n.202-1861C>T
NM_001082971.2:c.315+75C>T (DDC) MANE Select NP_001076440.2:n.315+75C>T
NM_000790.4:c.315+75C>T (DDC) NP_000781.2:n.315+75C>T
NM_001242888.2:c.201+4045C>T (DDC) NP_001229817.2:n.201+4045C>T
NM_001242890.2:c.315+75C>T (DDC) NP_001229819.2:n.315+75C>T
NM_001242886.2:c.202-1861C>T (DDC) NP_001229815.2:n.202-1861C>T
NM_001242887.2:c.315+75C>T (DDC) NP_001229816.2:n.315+75C>T
NM_001242889.2:c.315+75C>T (DDC) NP_001229818.2:n.315+75C>T