Canonical Allele Identifier: CA548492147

Gene: CCDC50

Linked Data

• dbSNP Id: rs1316783207
• gnomAD v2: 3-191074796-T-A
• gnomAD v3: 3-191357007-T-A
• gnomAD v4: 3-191357007-T-A
• MyVariant Identifiers: chr3:g.191074796T>A (hg19) ; chr3:g.191074796_191074797delinsAA (hg19) ; chr3:g.191357007T>A (hg38) ; chr3:g.191357007_191357008delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357007T>A , CM000665.2:g.191357007T>A	GRCh38
NC_000003.11:g.191074796T>A , CM000665.1:g.191074796T>A	GRCh37
NC_000003.10:g.192557490T>A	NCBI36
NG_008994.1:g.32923T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.50-81T>A MANE Select	ENSP00000376249.4:n.50-81T>A
ENST00000392456.4:c.50-81T>A	ENSP00000376250.4:n.50-81T>A
ENST00000392455.7:c.50-81T>A	ENSP00000376249.3:n.50-81T>A
ENST00000392456.3:c.50-81T>A	ENSP00000376250.3:n.50-81T>A
NM_174908.3:c.50-81T>A	NP_777568.1:n.50-81T>A
NM_178335.2:c.50-81T>A	NP_848018.1:n.50-81T>A
XM_011512460.1:c.50-81T>A	XP_011510762.1:n.50-81T>A
NM_178335.3:c.50-81T>A MANE Select	NP_848018.1:n.50-81T>A
NM_174908.4:c.50-81T>A	NP_777568.1:n.50-81T>A