Canonical Allele Identifier: CA361518726
Gene: DIAPH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573798A>T , CM000667.2:g.141573798A>T GRCh38
NC_000005.9:g.140953365A>T , CM000667.1:g.140953365A>T GRCh37
NC_000005.8:g.140933549A>T NCBI36
NG_011594.1:g.50258T>A
NG_011594.2:g.50258T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2052T>A MANE Select ENSP00000373706.4:p.Ser684Arg
ENST00000647433.1:c.2052T>A ENSP00000494675.1:p.Ser684Arg
ENST00000253811.10:c.1920T>A ENSP00000253811.7:p.Ser640Arg
ENST00000389054.7:c.2052T>A ENSP00000373706.4:p.Ser684Arg
ENST00000389057.9:c.2025T>A ENSP00000373709.6:p.Ser675Arg
ENST00000398557.8:c.2052T>A ENSP00000381565.5:p.Ser684Arg
ENST00000518047.5:c.2025T>A ENSP00000428268.2:p.Ser675Arg
NM_001079812.2:c.2025T>A NP_001073280.1:p.Ser675Arg
NM_001314007.1:c.2052T>A NP_001300936.1:p.Ser684Arg
NM_005219.4:c.2052T>A NP_005210.3:p.Ser684Arg
XM_011537572.1:c.2016T>A XP_011535874.1:p.Ser672Arg
XM_011537573.1:c.1986T>A XP_011535875.1:p.Ser662Arg
XM_024454384.1:c.2052T>A XP_024310152.1:p.Ser684Arg
XM_024454385.1:c.2025T>A XP_024310153.1:p.Ser675Arg
XM_024454386.1:c.2016T>A XP_024310154.1:p.Ser672Arg
XM_024454387.1:c.1986T>A XP_024310155.1:p.Ser662Arg
NM_005219.5:c.2052T>A MANE Select NP_005210.3:p.Ser684Arg
NM_001079812.3:c.2025T>A NP_001073280.1:p.Ser675Arg
NM_001314007.2:c.2052T>A NP_001300936.1:p.Ser684Arg