Canonical Allele Identifier: CA399829336
Gene: CCDC103 HGNC NCBI
FAM187A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44902557C>G , CM000679.2:g.44902557C>G GRCh38
NC_000017.10:g.42979925C>G , CM000679.1:g.42979925C>G GRCh37
NC_000017.9:g.40335451C>G NCBI36
NG_032674.1:g.2069G>C
NG_032792.1:g.7846C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000417826.3:c.469C>G (CCDC103) MANE Select ENSP00000391692.2:p.Pro157Ala
ENST00000331733.4:c.-1273C>G (FAM187A) ENSP00000329499.4:n.-1273C>G
ENST00000357776.6:c.469C>G (CCDC103) ENSP00000350420.2:p.Pro157Ala
ENST00000410006.6:c.469C>G (CCDC103) ENSP00000387252.1:p.Pro157Ala
ENST00000412523.3:c.469C>G (FAM187A) ENSP00000391869.3:p.Pro157Ala
ENST00000417826.2:c.469C>G (CCDC103) ENSP00000391692.2:p.Pro157Ala
NM_001258395.1:c.469C>G (CCDC103) NP_001245324.1:p.Pro157Ala
NM_001258396.1:c.469C>G (CCDC103) NP_001245325.1:p.Pro157Ala
NM_001258397.1:c.*219C>G (CCDC103) NP_001245326.1:n.*219C>G
NM_001258398.1:c.*158C>G (CCDC103) NP_001245327.1:n.*158C>G
NM_001258399.1:c.*158C>G (CCDC103) NP_001245328.1:n.*158C>G
NM_213607.2:c.469C>G (CCDC103) NP_998772.1:p.Pro157Ala
NM_001258395.2:c.469C>G (CCDC103) NP_001245324.1:p.Pro157Ala
NM_001258396.2:c.469C>G (CCDC103) NP_001245325.1:p.Pro157Ala
NM_001258398.2:c.*158C>G (CCDC103) NP_001245327.1:n.*158C>G
NM_001258399.2:c.*158C>G (CCDC103) NP_001245328.1:n.*158C>G
NM_213607.3:c.469C>G (CCDC103) MANE Select NP_998772.1:p.Pro157Ala
NM_001258397.3:c.*219C>G (CCDC103) NP_001245326.1:n.*219C>G
NM_001258398.3:c.*158C>G (CCDC103) NP_001245327.1:n.*158C>G