Canonical Allele Identifier: CA437422115
Gene: CCDC50 HGNC NCBI

Linked Data

gnomAD v4: 3-191375132-T-C
MyVariant Identifiers: chr3:g.191092921T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375132T>C , CM000665.2:g.191375132T>C GRCh38
NC_000003.11:g.191092921T>C , CM000665.1:g.191092921T>C GRCh37
NC_000003.10:g.192575615T>C NCBI36
NG_008994.1:g.51048T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.519T>C MANE Select ENSP00000376249.4:p.Asp173=
ENST00000392456.4:c.449-5027T>C ENSP00000376250.4:n.449-5027T>C
ENST00000392455.7:c.449-5027T>C ENSP00000376249.3:n.449-5027T>C
ENST00000392456.3:c.519T>C ENSP00000376250.3:p.Asp173=
NM_174908.3:c.449-5027T>C NP_777568.1:n.449-5027T>C
NM_178335.2:c.519T>C NP_848018.1:p.Asp173=
XM_011512460.1:c.519T>C XP_011510762.1:p.Asp173=
NM_178335.3:c.519T>C MANE Select NP_848018.1:p.Asp173=
NM_174908.4:c.449-5027T>C NP_777568.1:n.449-5027T>C
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