Canonical Allele Identifier: CA395655266
Community Standard Title: NM_014712.3(SETD1A):c.1604G>A (p.Gly535Glu)
Gene: SETD1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30965346G>A , CM000678.2:g.30965346G>A GRCh38
NC_000016.9:g.30976667G>A , CM000678.1:g.30976667G>A GRCh37
NC_000016.8:g.30884168G>A NCBI36
NG_052948.1:g.13053G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014712.3:c.1604G>A MANE Select NP_055527.1:p.Gly535Glu
ENST00000262519.14:c.1604G>A MANE Select ENSP00000262519.8:p.Gly535Glu
NM_014712.2:c.1604G>A NP_055527.1:p.Gly535Glu
ENST00000262519.12:c.1604G>A ENSP00000262519.8:p.Gly535Glu
ENST00000684162.1:c.1604G>A ENSP00000507683.1:p.Gly535Glu
ENST00000710314.1:c.1604G>A ENSP00000518195.1:p.Gly535Glu
XM_005255723.1:c.1604G>A XP_005255780.1:p.Gly535Glu
XM_006721106.2:c.1604G>A XP_006721169.1:p.Gly535Glu
XM_006721106.3:c.1604G>A XP_006721169.1:p.Gly535Glu
XM_011545994.1:c.1604G>A XP_011544296.1:p.Gly535Glu
XM_011545995.1:c.1604G>A XP_011544297.1:p.Gly535Glu
XM_011545996.1:c.1604G>A XP_011544298.1:p.Gly535Glu
XM_017023909.1:c.1604G>A XP_016879398.1:p.Gly535Glu
XM_024450499.1:c.1604G>A XP_024306267.1:p.Gly535Glu