Canonical Allele Identifier: CA2755269
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs772166571
ExAC: 3:191092876 G / A
gnomAD v2: 3-191092876-G-A
gnomAD v4: 3-191375087-G-A
MyVariant Identifiers: chr3:g.191092876G>A (hg19) chr3:g.191375087G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375087G>A , CM000665.2:g.191375087G>A GRCh38
NC_000003.11:g.191092876G>A , CM000665.1:g.191092876G>A GRCh37
NC_000003.10:g.192575570G>A NCBI36
NG_008994.1:g.51003G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.474G>A MANE Select ENSP00000376249.4:p.Arg158=
ENST00000392456.4:c.448+5051G>A ENSP00000376250.4:n.448+5051G>A
ENST00000392455.7:c.448+5051G>A ENSP00000376249.3:n.448+5051G>A
ENST00000392456.3:c.474G>A ENSP00000376250.3:p.Arg158=
NM_174908.3:c.448+5051G>A NP_777568.1:n.448+5051G>A
NM_178335.2:c.474G>A NP_848018.1:p.Arg158=
XM_011512460.1:c.474G>A XP_011510762.1:p.Arg158=
NM_178335.3:c.474G>A MANE Select NP_848018.1:p.Arg158=
NM_174908.4:c.448+5051G>A NP_777568.1:n.448+5051G>A
Search 100 bp 5'
Search 100 bp 3'