Canonical Allele Identifier: CA397987414
Gene: HES7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8121692T>G , CM000679.2:g.8121692T>G GRCh38
NC_000017.10:g.8025010T>G , CM000679.1:g.8025010T>G GRCh37
NC_000017.9:g.7965735T>G NCBI36
NG_015807.1:g.2225A>C
NG_015816.1:g.7401A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000541682.7:c.572A>C MANE Select ENSP00000446205.2:p.Asp191Ala
ENST00000317814.8:c.557A>C ENSP00000314774.4:p.Asp186Ala
ENST00000541682.6:c.572A>C ENSP00000446205.2:p.Asp191Ala
NM_001165967.1:c.572A>C NP_001159439.1:p.Asp191Ala
NM_032580.3:c.557A>C NP_115969.2:p.Asp186Ala
XM_011524038.1:c.677A>C XP_011522340.1:p.Asp226Ala
XM_011524039.1:c.668A>C XP_011522341.1:p.Asp223Ala
XM_011524040.1:c.668A>C XP_011522342.1:p.Asp223Ala
XM_011524041.1:c.659A>C XP_011522343.1:p.Asp220Ala
XM_011524042.1:c.530A>C XP_011522344.1:p.Asp177Ala
XR_934203.1:n.69+1878T>G
XM_017025232.1:c.677A>C XP_016880721.1:p.Asp226Ala
XM_024451007.1:c.677A>C XP_024306775.1:p.Asp226Ala
NM_001165967.2:c.572A>C MANE Select NP_001159439.1:p.Asp191Ala
NM_032580.4:c.557A>C NP_115969.2:p.Asp186Ala