Canonical Allele Identifier: CA1057747119

Gene: CCDC50

Linked Data

• dbSNP Id: rs1713084416
• gnomAD v3: 3-191375601-C-T
• gnomAD v4: 3-191375601-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375601C>T , CM000665.2:g.191375601C>T	GRCh38
NC_000003.11:g.191093390C>T , CM000665.1:g.191093390C>T	GRCh37
NC_000003.10:g.192576084C>T	NCBI36
NG_008994.1:g.51517C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000392455.9:c.976+12C>T MANE Select	ENSP00000376249.4:n.976+12C>T
ENST00000392456.4:c.449-4558C>T	ENSP00000376250.4:n.449-4558C>T
ENST00000392455.7:c.449-4558C>T	ENSP00000376249.3:n.449-4558C>T
ENST00000392456.3:c.976+12C>T	ENSP00000376250.3:n.976+12C>T
NM_174908.3:c.449-4558C>T	NP_777568.1:n.449-4558C>T
NM_178335.2:c.976+12C>T	NP_848018.1:n.976+12C>T
XM_011512460.1:c.976+12C>T	XP_011510762.1:n.976+12C>T
NM_178335.3:c.976+12C>T MANE Select	NP_848018.1:n.976+12C>T
NM_174908.4:c.449-4558C>T	NP_777568.1:n.449-4558C>T