Canonical Allele Identifier: CA89772448
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs1047239826
gnomAD v4: 3-191357294-T-C
MyVariant Identifiers: chr3:g.191075083T>C (hg19) chr3:g.191357294T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191357294T>C , CM000665.2:g.191357294T>C GRCh38
NC_000003.11:g.191075083T>C , CM000665.1:g.191075083T>C GRCh37
NC_000003.10:g.192557777T>C NCBI36
NG_008994.1:g.33210T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.112+144T>C MANE Select ENSP00000376249.4:n.112+144T>C
ENST00000392456.4:c.112+144T>C ENSP00000376250.4:n.112+144T>C
ENST00000392455.7:c.112+144T>C ENSP00000376249.3:n.112+144T>C
ENST00000392456.3:c.112+144T>C ENSP00000376250.3:n.112+144T>C
NM_174908.3:c.112+144T>C NP_777568.1:n.112+144T>C
NM_178335.2:c.112+144T>C NP_848018.1:n.112+144T>C
XM_011512460.1:c.112+144T>C XP_011510762.1:n.112+144T>C
NM_178335.3:c.112+144T>C MANE Select NP_848018.1:n.112+144T>C
NM_174908.4:c.112+144T>C NP_777568.1:n.112+144T>C
Search 100 bp 5'
Search 100 bp 3'