Canonical Allele Identifier: CA437637530

Gene: CCDC50

Linked Data

• dbSNP Id: rs199687225
• gnomAD v2: 3-191093029-G-T
• gnomAD v4: 3-191375240-G-T
• MyVariant Identifiers: chr3:g.191093029G>T (hg19) ; chr3:g.191375240G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375240G>T , CM000665.2:g.191375240G>T	GRCh38
NC_000003.11:g.191093029G>T , CM000665.1:g.191093029G>T	GRCh37
NC_000003.10:g.192575723G>T	NCBI36
NG_008994.1:g.51156G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392455.9:c.627G>T MANE Select	ENSP00000376249.4:p.Ser209=
ENST00000392456.4:c.449-4919G>T	ENSP00000376250.4:n.449-4919G>T
ENST00000392455.7:c.449-4919G>T	ENSP00000376249.3:n.449-4919G>T
ENST00000392456.3:c.627G>T	ENSP00000376250.3:p.Ser209=
NM_174908.3:c.449-4919G>T	NP_777568.1:n.449-4919G>T
NM_178335.2:c.627G>T	NP_848018.1:p.Ser209=
XM_011512460.1:c.627G>T	XP_011510762.1:p.Ser209=
NM_178335.3:c.627G>T MANE Select	NP_848018.1:p.Ser209=
NM_174908.4:c.449-4919G>T	NP_777568.1:n.449-4919G>T