Canonical Allele Identifier: CA2755366

Gene: CCDC50

Linked Data

• dbSNP Id: rs758825163
• ExAC: 3:191093391 A / C
• gnomAD v2: 3-191093391-A-C
• gnomAD v3: 3-191375602-A-C
• gnomAD v4: 3-191375602-A-C
• MyVariant Identifiers: chr3:g.191093391A>C (hg19) ; chr3:g.191375602A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375602A>C , CM000665.2:g.191375602A>C	GRCh38
NC_000003.11:g.191093391A>C , CM000665.1:g.191093391A>C	GRCh37
NC_000003.10:g.192576085A>C	NCBI36
NG_008994.1:g.51518A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000392455.9:c.976+13A>C MANE Select	ENSP00000376249.4:n.976+13A>C
ENST00000392456.4:c.449-4557A>C	ENSP00000376250.4:n.449-4557A>C
ENST00000392455.7:c.449-4557A>C	ENSP00000376249.3:n.449-4557A>C
ENST00000392456.3:c.976+13A>C	ENSP00000376250.3:n.976+13A>C
NM_174908.3:c.449-4557A>C	NP_777568.1:n.449-4557A>C
NM_178335.2:c.976+13A>C	NP_848018.1:n.976+13A>C
XM_011512460.1:c.976+13A>C	XP_011510762.1:n.976+13A>C
NM_178335.3:c.976+13A>C MANE Select	NP_848018.1:n.976+13A>C
NM_174908.4:c.449-4557A>C	NP_777568.1:n.449-4557A>C