Canonical Allele Identifier: CA437420634

Gene: CCDC50

Linked Data

• gnomAD v4: 3-191357135-C-T
• MyVariant Identifiers: chr3:g.191074924C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357135C>T , CM000665.2:g.191357135C>T	GRCh38
NC_000003.11:g.191074924C>T , CM000665.1:g.191074924C>T	GRCh37
NC_000003.10:g.192557618C>T	NCBI36
NG_008994.1:g.33051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.97C>T MANE Select	ENSP00000376249.4:p.Leu33=
ENST00000392456.4:c.97C>T	ENSP00000376250.4:p.Leu33=
ENST00000392455.7:c.97C>T	ENSP00000376249.3:p.Leu33=
ENST00000392456.3:c.97C>T	ENSP00000376250.3:p.Leu33=
NM_174908.3:c.97C>T	NP_777568.1:p.Leu33=
NM_178335.2:c.97C>T	NP_848018.1:p.Leu33=
XM_011512460.1:c.97C>T	XP_011510762.1:p.Leu33=
NM_178335.3:c.97C>T MANE Select	NP_848018.1:p.Leu33=
NM_174908.4:c.97C>T	NP_777568.1:p.Leu33=