Canonical Allele Identifier: CA355763673
Gene: CCDC50 HGNC NCBI

Linked Data

dbSNP Id: rs200531070
MyVariant Identifiers: chr3:g.191092896C>G (hg19) chr3:g.191375107C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375107C>G , CM000665.2:g.191375107C>G GRCh38
NC_000003.11:g.191092896C>G , CM000665.1:g.191092896C>G GRCh37
NC_000003.10:g.192575590C>G NCBI36
NG_008994.1:g.51023C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.494C>G MANE Select ENSP00000376249.4:p.Ser165Ter
ENST00000392456.4:c.449-5052C>G ENSP00000376250.4:n.449-5052C>G
ENST00000392455.7:c.449-5052C>G ENSP00000376249.3:n.449-5052C>G
ENST00000392456.3:c.494C>G ENSP00000376250.3:p.Ser165Ter
NM_174908.3:c.449-5052C>G NP_777568.1:n.449-5052C>G
NM_178335.2:c.494C>G NP_848018.1:p.Ser165Ter
XM_011512460.1:c.494C>G XP_011510762.1:p.Ser165Ter
NM_178335.3:c.494C>G MANE Select NP_848018.1:p.Ser165Ter
NM_174908.4:c.449-5052C>G NP_777568.1:n.449-5052C>G
Search 100 bp 5'
Search 100 bp 3'