Canonical Allele Identifier: CA395637039

Gene: SETD1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30983953A>G , CM000678.2:g.30983953A>G	GRCh38
NC_000016.9:g.30995274A>G , CM000678.1:g.30995274A>G	GRCh37
NC_000016.8:g.30902775A>G	NCBI36
NG_012346.1:g.3756A>G
NG_052948.1:g.31660A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014712.3:c.5054A>G MANE Select	NP_055527.1:p.Lys1685Arg
ENST00000262519.14:c.5054A>G MANE Select	ENSP00000262519.8:p.Lys1685Arg
NM_014712.2:c.5054A>G	NP_055527.1:p.Lys1685Arg
ENST00000262519.12:c.5054A>G	ENSP00000262519.8:p.Lys1685Arg
ENST00000684162.1:c.5054A>G	ENSP00000507683.1:p.Lys1685Arg
ENST00000710314.1:c.5054A>G	ENSP00000518195.1:p.Lys1685Arg
XM_005255723.1:c.5054A>G	XP_005255780.1:p.Lys1685Arg
XM_006721106.2:c.5054A>G	XP_006721169.1:p.Lys1685Arg
XM_006721106.3:c.5054A>G	XP_006721169.1:p.Lys1685Arg
XM_011545994.1:c.5054A>G	XP_011544296.1:p.Lys1685Arg
XM_011545995.1:c.5054A>G	XP_011544297.1:p.Lys1685Arg
XM_011545996.1:c.5054A>G	XP_011544298.1:p.Lys1685Arg
XM_017023909.1:c.5054A>G	XP_016879398.1:p.Lys1685Arg
XM_024450499.1:c.5054A>G	XP_024306267.1:p.Lys1685Arg