Canonical Allele Identifier: CA348483609
Gene: CCDC74B HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130142157A>T , CM000664.2:g.130142157A>T GRCh38
NC_000002.11:g.130899730A>T , CM000664.1:g.130899730A>T GRCh37
NC_000002.10:g.130616200A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000409943.8:c.322T>A MANE Select ENSP00000386294.3:p.Ser108Thr
ENST00000310463.10:c.520T>A ENSP00000308873.6:p.Ser174Thr
ENST00000392984.7:c.520T>A ENSP00000376710.4:p.Ser174Thr
ENST00000409128.5:c.448T>A ENSP00000386644.1:p.Ser150Thr
ENST00000409943.7:c.322T>A ENSP00000386294.3:p.Ser108Thr
ENST00000423263.5:c.*144T>A ENSP00000410864.1:n.*144T>A
ENST00000434929.1:c.*341T>A ENSP00000404494.1:n.*341T>A
ENST00000496704.1:n.872T>A
NM_001258307.1:c.322T>A NP_001245236.1:p.Ser108Thr
NM_207310.2:c.520T>A NP_997193.1:p.Ser174Thr
XM_005263840.2:c.646T>A XP_005263897.1:p.Ser216Thr
XM_005263842.2:c.448T>A XP_005263899.1:p.Ser150Thr
XM_006712833.2:c.646T>A XP_006712896.1:p.Ser216Thr
XM_006712834.2:c.520T>A XP_006712897.1:p.Ser174Thr
XM_006712835.2:c.448T>A XP_006712898.1:p.Ser150Thr
XM_006712837.2:c.322T>A XP_006712900.1:p.Ser108Thr
XM_011512142.1:c.826T>A XP_011510444.1:p.Ser276Thr
XM_011512143.1:c.646T>A XP_011510445.1:p.Ser216Thr
XM_011512144.1:c.646T>A XP_011510446.1:p.Ser216Thr
XM_011512145.1:c.448T>A XP_011510447.1:p.Ser150Thr
XM_011512146.1:c.448T>A XP_011510448.1:p.Ser150Thr
XM_011512147.1:c.646T>A XP_011510449.1:p.Ser216Thr
XM_006712834.3:c.520T>A XP_006712897.1:p.Ser174Thr
XM_011512142.2:c.826T>A XP_011510444.1:p.Ser276Thr
XR_001739033.1:n.683T>A
XR_001739034.1:n.683T>A
XR_001739035.1:n.485T>A
XR_001739036.1:n.485T>A
NM_001258307.2:c.322T>A MANE Select NP_001245236.1:p.Ser108Thr
NM_207310.4:c.520T>A NP_997193.1:p.Ser174Thr
NR_165309.1:n.564T>A