Canonical Allele Identifier: CA355763866

Gene: CCDC50

Linked Data

• gnomAD v4: 3-191375149-A-T
• MyVariant Identifiers: chr3:g.191092938A>T (hg19) ; chr3:g.191375149A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375149A>T , CM000665.2:g.191375149A>T	GRCh38
NC_000003.11:g.191092938A>T , CM000665.1:g.191092938A>T	GRCh37
NC_000003.10:g.192575632A>T	NCBI36
NG_008994.1:g.51065A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.536A>T MANE Select	ENSP00000376249.4:p.His179Leu
ENST00000392456.4:c.449-5010A>T	ENSP00000376250.4:n.449-5010A>T
ENST00000392455.7:c.449-5010A>T	ENSP00000376249.3:n.449-5010A>T
ENST00000392456.3:c.536A>T	ENSP00000376250.3:p.His179Leu
NM_174908.3:c.449-5010A>T	NP_777568.1:n.449-5010A>T
NM_178335.2:c.536A>T	NP_848018.1:p.His179Leu
XM_011512460.1:c.536A>T	XP_011510762.1:p.His179Leu
NM_178335.3:c.536A>T MANE Select	NP_848018.1:p.His179Leu
NM_174908.4:c.449-5010A>T	NP_777568.1:n.449-5010A>T