Canonical Allele Identifier: CA355764480

Gene: CCDC50

Linked Data

• gnomAD v4: 3-191375398-C-G
• MyVariant Identifiers: chr3:g.191093187C>G (hg19) ; chr3:g.191375398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375398C>G , CM000665.2:g.191375398C>G	GRCh38
NC_000003.11:g.191093187C>G , CM000665.1:g.191093187C>G	GRCh37
NC_000003.10:g.192575881C>G	NCBI36
NG_008994.1:g.51314C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.785C>G MANE Select	ENSP00000376249.4:p.Thr262Ser
ENST00000392456.4:c.449-4761C>G	ENSP00000376250.4:n.449-4761C>G
ENST00000392455.7:c.449-4761C>G	ENSP00000376249.3:n.449-4761C>G
ENST00000392456.3:c.785C>G	ENSP00000376250.3:p.Thr262Ser
NM_174908.3:c.449-4761C>G	NP_777568.1:n.449-4761C>G
NM_178335.2:c.785C>G	NP_848018.1:p.Thr262Ser
XM_011512460.1:c.785C>G	XP_011510762.1:p.Thr262Ser
NM_178335.3:c.785C>G MANE Select	NP_848018.1:p.Thr262Ser
NM_174908.4:c.449-4761C>G	NP_777568.1:n.449-4761C>G