Canonical Allele Identifier: CA2755368

Gene: CCDC50

Linked Data

• dbSNP Id: rs375958338
• ExAC: 3:191093396 C / A
• gnomAD v2: 3-191093396-C-A
• gnomAD v3: 3-191375607-C-A
• gnomAD v4: 3-191375607-C-A
• MyVariant Identifiers: chr3:g.191093396C>A (hg19) ; chr3:g.191375607C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375607C>A , CM000665.2:g.191375607C>A	GRCh38
NC_000003.11:g.191093396C>A , CM000665.1:g.191093396C>A	GRCh37
NC_000003.10:g.192576090C>A	NCBI36
NG_008994.1:g.51523C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000392455.9:c.976+18C>A MANE Select	ENSP00000376249.4:n.976+18C>A
ENST00000392456.4:c.449-4552C>A	ENSP00000376250.4:n.449-4552C>A
ENST00000392455.7:c.449-4552C>A	ENSP00000376249.3:n.449-4552C>A
ENST00000392456.3:c.976+18C>A	ENSP00000376250.3:n.976+18C>A
NM_174908.3:c.449-4552C>A	NP_777568.1:n.449-4552C>A
NM_178335.2:c.976+18C>A	NP_848018.1:n.976+18C>A
XM_011512460.1:c.976+18C>A	XP_011510762.1:n.976+18C>A
NM_178335.3:c.976+18C>A MANE Select	NP_848018.1:n.976+18C>A
NM_174908.4:c.449-4552C>A	NP_777568.1:n.449-4552C>A