Canonical Allele Identifier: CA1429222377
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs373683606
gnomAD v4: 3-191375621-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375621G>A , CM000665.2:g.191375621G>A GRCh38
NC_000003.11:g.191093410G>A , CM000665.1:g.191093410G>A GRCh37
NC_000003.10:g.192576104G>A NCBI36
NG_008994.1:g.51537G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000392455.9:c.976+32G>A MANE Select ENSP00000376249.4:n.976+32G>A
ENST00000392456.4:c.449-4538G>A ENSP00000376250.4:n.449-4538G>A
ENST00000392455.7:c.449-4538G>A ENSP00000376249.3:n.449-4538G>A
ENST00000392456.3:c.976+32G>A ENSP00000376250.3:n.976+32G>A
NM_174908.3:c.449-4538G>A NP_777568.1:n.449-4538G>A
NM_178335.2:c.976+32G>A NP_848018.1:n.976+32G>A
XM_011512460.1:c.976+32G>A XP_011510762.1:n.976+32G>A
NM_178335.3:c.976+32G>A MANE Select NP_848018.1:n.976+32G>A
NM_174908.4:c.449-4538G>A NP_777568.1:n.449-4538G>A
Search 100 bp 5'
Search 100 bp 3'