Canonical Allele Identifier: CA2755371

Gene: CCDC50

Linked Data

• dbSNP Id: rs370227079
• ExAC: 3:191093397 G / C
• gnomAD v2: 3-191093397-G-C
• gnomAD v4: 3-191375608-G-C
• MyVariant Identifiers: chr3:g.191093397G>C (hg19) ; chr3:g.191375608G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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