Canonical Allele Identifier: CA355764278

Gene: CCDC50

Linked Data

• MyVariant Identifiers: chr3:g.191093092G>C (hg19) ; chr3:g.191375303G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375303G>C , CM000665.2:g.191375303G>C	GRCh38
NC_000003.11:g.191093092G>C , CM000665.1:g.191093092G>C	GRCh37
NC_000003.10:g.192575786G>C	NCBI36
NG_008994.1:g.51219G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.690G>C MANE Select	ENSP00000376249.4:p.Gln230His
ENST00000392456.4:c.449-4856G>C	ENSP00000376250.4:n.449-4856G>C
ENST00000392455.7:c.449-4856G>C	ENSP00000376249.3:n.449-4856G>C
ENST00000392456.3:c.690G>C	ENSP00000376250.3:p.Gln230His
NM_174908.3:c.449-4856G>C	NP_777568.1:n.449-4856G>C
NM_178335.2:c.690G>C	NP_848018.1:p.Gln230His
XM_011512460.1:c.690G>C	XP_011510762.1:p.Gln230His
NM_178335.3:c.690G>C MANE Select	NP_848018.1:p.Gln230His
NM_174908.4:c.449-4856G>C	NP_777568.1:n.449-4856G>C