Canonical Allele Identifier: CA361518705
Gene: DIAPH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141573797C>T , CM000667.2:g.141573797C>T GRCh38
NC_000005.9:g.140953364C>T , CM000667.1:g.140953364C>T GRCh37
NC_000005.8:g.140933548C>T NCBI36
NG_011594.1:g.50259G>A
NG_011594.2:g.50259G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000389054.8:c.2053G>A MANE Select ENSP00000373706.4:p.Ala685Thr
ENST00000647433.1:c.2053G>A ENSP00000494675.1:p.Ala685Thr
ENST00000253811.10:c.1921G>A ENSP00000253811.7:p.Ala641Thr
ENST00000389054.7:c.2053G>A ENSP00000373706.4:p.Ala685Thr
ENST00000389057.9:c.2026G>A ENSP00000373709.6:p.Ala676Thr
ENST00000398557.8:c.2053G>A ENSP00000381565.5:p.Ala685Thr
ENST00000518047.5:c.2026G>A ENSP00000428268.2:p.Ala676Thr
NM_001079812.2:c.2026G>A NP_001073280.1:p.Ala676Thr
NM_001314007.1:c.2053G>A NP_001300936.1:p.Ala685Thr
NM_005219.4:c.2053G>A NP_005210.3:p.Ala685Thr
XM_011537572.1:c.2017G>A XP_011535874.1:p.Ala673Thr
XM_011537573.1:c.1987G>A XP_011535875.1:p.Ala663Thr
XM_024454384.1:c.2053G>A XP_024310152.1:p.Ala685Thr
XM_024454385.1:c.2026G>A XP_024310153.1:p.Ala676Thr
XM_024454386.1:c.2017G>A XP_024310154.1:p.Ala673Thr
XM_024454387.1:c.1987G>A XP_024310155.1:p.Ala663Thr
NM_005219.5:c.2053G>A MANE Select NP_005210.3:p.Ala685Thr
NM_001079812.3:c.2026G>A NP_001073280.1:p.Ala676Thr
NM_001314007.2:c.2053G>A NP_001300936.1:p.Ala685Thr