Canonical Allele Identifier: CA355763991

Gene: CCDC50

Linked Data

• dbSNP Id: rs1322744129
• gnomAD v2: 3-191092962-C-T
• gnomAD v4: 3-191375173-C-T
• MyVariant Identifiers: chr3:g.191092962C>T (hg19) ; chr3:g.191375173C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375173C>T , CM000665.2:g.191375173C>T	GRCh38
NC_000003.11:g.191092962C>T , CM000665.1:g.191092962C>T	GRCh37
NC_000003.10:g.192575656C>T	NCBI36
NG_008994.1:g.51089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.560C>T MANE Select	ENSP00000376249.4:p.Pro187Leu
ENST00000392456.4:c.449-4986C>T	ENSP00000376250.4:n.449-4986C>T
ENST00000392455.7:c.449-4986C>T	ENSP00000376249.3:n.449-4986C>T
ENST00000392456.3:c.560C>T	ENSP00000376250.3:p.Pro187Leu
NM_174908.3:c.449-4986C>T	NP_777568.1:n.449-4986C>T
NM_178335.2:c.560C>T	NP_848018.1:p.Pro187Leu
XM_011512460.1:c.560C>T	XP_011510762.1:p.Pro187Leu
NM_178335.3:c.560C>T MANE Select	NP_848018.1:p.Pro187Leu
NM_174908.4:c.449-4986C>T	NP_777568.1:n.449-4986C>T