Canonical Allele Identifier: CA355764223

Gene: CCDC50

Linked Data

• dbSNP Id: rs1416746695
• gnomAD v2: 3-191093067-A-C
• gnomAD v4: 3-191375278-A-C
• MyVariant Identifiers: chr3:g.191093067A>C (hg19) ; chr3:g.191375278A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375278A>C , CM000665.2:g.191375278A>C	GRCh38
NC_000003.11:g.191093067A>C , CM000665.1:g.191093067A>C	GRCh37
NC_000003.10:g.192575761A>C	NCBI36
NG_008994.1:g.51194A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.665A>C MANE Select	ENSP00000376249.4:p.Gln222Pro
ENST00000392456.4:c.449-4881A>C	ENSP00000376250.4:n.449-4881A>C
ENST00000392455.7:c.449-4881A>C	ENSP00000376249.3:n.449-4881A>C
ENST00000392456.3:c.665A>C	ENSP00000376250.3:p.Gln222Pro
NM_174908.3:c.449-4881A>C	NP_777568.1:n.449-4881A>C
NM_178335.2:c.665A>C	NP_848018.1:p.Gln222Pro
XM_011512460.1:c.665A>C	XP_011510762.1:p.Gln222Pro
NM_178335.3:c.665A>C MANE Select	NP_848018.1:p.Gln222Pro
NM_174908.4:c.449-4881A>C	NP_777568.1:n.449-4881A>C