Canonical Allele Identifier: CA395646446

Gene: SETD1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30959134G>A , CM000678.2:g.30959134G>A	GRCh38
NC_000016.9:g.30970455G>A , CM000678.1:g.30970455G>A	GRCh37
NC_000016.8:g.30877956G>A	NCBI36
NG_052948.1:g.6841G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014712.3:c.194G>A MANE Select	NP_055527.1:p.Cys65Tyr
ENST00000262519.14:c.194G>A MANE Select	ENSP00000262519.8:p.Cys65Tyr
NM_014712.2:c.194G>A	NP_055527.1:p.Cys65Tyr
ENST00000262519.12:c.194G>A	ENSP00000262519.8:p.Cys65Tyr
ENST00000452917.1:c.194G>A	ENSP00000391408.1:p.Cys65Tyr
ENST00000452917.2:c.172G>A	ENSP00000391408.2:p.Ala58Thr
ENST00000452917.3:c.194G>A	ENSP00000391408.3:p.Cys65Tyr
ENST00000682768.1:c.194G>A	ENSP00000508271.1:p.Cys65Tyr
ENST00000684162.1:c.194G>A	ENSP00000507683.1:p.Cys65Tyr
ENST00000710314.1:c.194G>A	ENSP00000518195.1:p.Cys65Tyr
XM_005255723.1:c.194G>A	XP_005255780.1:p.Cys65Tyr
XM_006721106.2:c.194G>A	XP_006721169.1:p.Cys65Tyr
XM_006721106.3:c.194G>A	XP_006721169.1:p.Cys65Tyr
XM_011545994.1:c.194G>A	XP_011544296.1:p.Cys65Tyr
XM_011545995.1:c.194G>A	XP_011544297.1:p.Cys65Tyr
XM_011545996.1:c.194G>A	XP_011544298.1:p.Cys65Tyr
XM_017023909.1:c.194G>A	XP_016879398.1:p.Cys65Tyr
XM_024450499.1:c.194G>A	XP_024306267.1:p.Cys65Tyr