Canonical Allele Identifier: CA2755299

Gene: CCDC50

Linked Data

• dbSNP Id: rs751140851
• ExAC: 3:191093055 T / C
• gnomAD v2: 3-191093055-T-C
• gnomAD v4: 3-191375266-T-C
• MyVariant Identifiers: chr3:g.191093055T>C (hg19) ; chr3:g.191375266T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375266T>C , CM000665.2:g.191375266T>C	GRCh38
NC_000003.11:g.191093055T>C , CM000665.1:g.191093055T>C	GRCh37
NC_000003.10:g.192575749T>C	NCBI36
NG_008994.1:g.51182T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.653T>C MANE Select	ENSP00000376249.4:p.Ile218Thr
ENST00000392456.4:c.449-4893T>C	ENSP00000376250.4:n.449-4893T>C
ENST00000392455.7:c.449-4893T>C	ENSP00000376249.3:n.449-4893T>C
ENST00000392456.3:c.653T>C	ENSP00000376250.3:p.Ile218Thr
NM_174908.3:c.449-4893T>C	NP_777568.1:n.449-4893T>C
NM_178335.2:c.653T>C	NP_848018.1:p.Ile218Thr
XM_011512460.1:c.653T>C	XP_011510762.1:p.Ile218Thr
NM_178335.3:c.653T>C MANE Select	NP_848018.1:p.Ile218Thr
NM_174908.4:c.449-4893T>C	NP_777568.1:n.449-4893T>C