Canonical Allele Identifier: CA395633381
Gene: SETD1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30980589A>G , CM000678.2:g.30980589A>G GRCh38
NC_000016.9:g.30991910A>G , CM000678.1:g.30991910A>G GRCh37
NC_000016.8:g.30899411A>G NCBI36
NG_012346.1:g.392A>G
NG_052948.1:g.28296A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710314.1:c.4513A>G ENSP00000518195.1:p.Lys1505Glu
ENST00000684162.1:c.4513A>G ENSP00000507683.1:p.Lys1505Glu
ENST00000262519.14:c.4513A>G MANE Select ENSP00000262519.8:p.Lys1505Glu
ENST00000640410.1:n.537A>G
ENST00000262519.12:c.4513A>G ENSP00000262519.8:p.Lys1505Glu
NM_014712.2:c.4513A>G NP_055527.1:p.Lys1505Glu
XM_005255723.1:c.4513A>G XP_005255780.1:p.Lys1505Glu
XM_006721106.2:c.4513A>G XP_006721169.1:p.Lys1505Glu
XM_011545994.1:c.4513A>G XP_011544296.1:p.Lys1505Glu
XM_011545995.1:c.4513A>G XP_011544297.1:p.Lys1505Glu
XM_011545996.1:c.4513A>G XP_011544298.1:p.Lys1505Glu
XM_006721106.3:c.4513A>G XP_006721169.1:p.Lys1505Glu
XM_017023909.1:c.4513A>G XP_016879398.1:p.Lys1505Glu
XM_024450499.1:c.4513A>G XP_024306267.1:p.Lys1505Glu
NM_014712.3:c.4513A>G MANE Select NP_055527.1:p.Lys1505Glu