Canonical Allele Identifier: CA2577992120

Gene: CCDC50

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357219T>C , CM000665.2:g.191357219T>C	GRCh38
NC_000003.11:g.191075008T>C , CM000665.1:g.191075008T>C	GRCh37
NC_000003.10:g.192557702T>C	NCBI36
NG_008994.1:g.33135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.112+69T>C MANE Select	ENSP00000376249.4:n.112+69T>C
ENST00000392456.4:c.112+69T>C	ENSP00000376250.4:n.112+69T>C
ENST00000392455.7:c.112+69T>C	ENSP00000376249.3:n.112+69T>C
ENST00000392456.3:c.112+69T>C	ENSP00000376250.3:n.112+69T>C
NM_174908.3:c.112+69T>C	NP_777568.1:n.112+69T>C
NM_178335.2:c.112+69T>C	NP_848018.1:n.112+69T>C
XM_011512460.1:c.112+69T>C	XP_011510762.1:n.112+69T>C
NM_178335.3:c.112+69T>C MANE Select	NP_848018.1:n.112+69T>C
NM_174908.4:c.112+69T>C	NP_777568.1:n.112+69T>C