Canonical Allele Identifier: CA287537084

Gene: HES7

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121707G>T , CM000679.2:g.8121707G>T	GRCh38
NC_000017.10:g.8025025G>T , CM000679.1:g.8025025G>T	GRCh37
NC_000017.9:g.7965750G>T	NCBI36
NG_015807.1:g.2210C>A
NG_015816.1:g.7386C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001165967.2:c.557C>A MANE Select	NP_001159439.1:p.Ser186Tyr
ENST00000541682.7:c.557C>A MANE Select	ENSP00000446205.2:p.Ser186Tyr
NM_001165967.1:c.557C>A	NP_001159439.1:p.Ser186Tyr
NM_032580.3:c.542C>A	NP_115969.2:p.Ser181Tyr
NM_032580.4:c.542C>A	NP_115969.2:p.Ser181Tyr
ENST00000317814.8:c.542C>A	ENSP00000314774.4:p.Ser181Tyr
ENST00000541682.6:c.557C>A	ENSP00000446205.2:p.Ser186Tyr
XM_011524038.1:c.662C>A	XP_011522340.1:p.Ser221Tyr
XM_011524039.1:c.653C>A	XP_011522341.1:p.Ser218Tyr
XM_011524040.1:c.653C>A	XP_011522342.1:p.Ser218Tyr
XM_011524041.1:c.644C>A	XP_011522343.1:p.Ser215Tyr
XM_011524042.1:c.515C>A	XP_011522344.1:p.Ser172Tyr
XM_017025232.1:c.662C>A	XP_016880721.1:p.Ser221Tyr
XM_024451007.1:c.662C>A	XP_024306775.1:p.Ser221Tyr
XR_934203.1:n.69+1893G>T