Canonical Allele Identifier: CA548798679
Gene: CCDC50 HGNC NCBI

Linked Data

ClinVar Variation Id: 2980245
ClinVar RCV Id: RCV003837419
dbSNP Id: rs370227079
gnomAD v2: 3-191093397-G-T
gnomAD v4: 3-191375608-G-T
MyVariant Identifiers: chr3:g.191093397G>T (hg19) chr3:g.191375608G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375608G>T , CM000665.2:g.191375608G>T GRCh38
NC_000003.11:g.191093397G>T , CM000665.1:g.191093397G>T GRCh37
NC_000003.10:g.192576091G>T NCBI36
NG_008994.1:g.51524G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000392455.9:c.976+19G>T MANE Select ENSP00000376249.4:n.976+19G>T
ENST00000392456.4:c.449-4551G>T ENSP00000376250.4:n.449-4551G>T
ENST00000392455.7:c.449-4551G>T ENSP00000376249.3:n.449-4551G>T
ENST00000392456.3:c.976+19G>T ENSP00000376250.3:n.976+19G>T
NM_174908.3:c.449-4551G>T NP_777568.1:n.449-4551G>T
NM_178335.2:c.976+19G>T NP_848018.1:n.976+19G>T
XM_011512460.1:c.976+19G>T XP_011510762.1:n.976+19G>T
NM_178335.3:c.976+19G>T MANE Select NP_848018.1:n.976+19G>T
NM_174908.4:c.449-4551G>T NP_777568.1:n.449-4551G>T
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