Canonical Allele Identifier: CA2669072617
Gene: CCDC50 HGNC NCBI

Linked Data

gnomAD v4: 3-191375606-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375606T>G , CM000665.2:g.191375606T>G GRCh38
NC_000003.11:g.191093395T>G , CM000665.1:g.191093395T>G GRCh37
NC_000003.10:g.192576089T>G NCBI36
NG_008994.1:g.51522T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000392455.9:c.976+17T>G MANE Select ENSP00000376249.4:n.976+17T>G
ENST00000392456.4:c.449-4553T>G ENSP00000376250.4:n.449-4553T>G
ENST00000392455.7:c.449-4553T>G ENSP00000376249.3:n.449-4553T>G
ENST00000392456.3:c.976+17T>G ENSP00000376250.3:n.976+17T>G
NM_174908.3:c.449-4553T>G NP_777568.1:n.449-4553T>G
NM_178335.2:c.976+17T>G NP_848018.1:n.976+17T>G
XM_011512460.1:c.976+17T>G XP_011510762.1:n.976+17T>G
NM_178335.3:c.976+17T>G MANE Select NP_848018.1:n.976+17T>G
NM_174908.4:c.449-4553T>G NP_777568.1:n.449-4553T>G
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