Canonical Allele Identifier: CA658683937

Gene: SETD1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30980854G>A , CM000678.2:g.30980854G>A	GRCh38
NC_000016.9:g.30992175G>A , CM000678.1:g.30992175G>A	GRCh37
NC_000016.8:g.30899676G>A	NCBI36
NG_012346.1:g.657G>A
NG_052948.1:g.28561G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014712.3:c.4692+5G>A MANE Select	NP_055527.1:n.4692+5G>A
ENST00000262519.14:c.4692+5G>A MANE Select	ENSP00000262519.8:n.4692+5G>A
NM_014712.2:c.4692+5G>A	NP_055527.1:n.4692+5G>A
ENST00000262519.12:c.4692+5G>A	ENSP00000262519.8:n.4692+5G>A
ENST00000684162.1:c.4692+5G>A	ENSP00000507683.1:n.4692+5G>A
ENST00000710314.1:c.4692+5G>A	ENSP00000518195.1:n.4692+5G>A
XM_005255723.1:c.4692+5G>A	XP_005255780.1:n.4692+5G>A
XM_006721106.2:c.4692+5G>A	XP_006721169.1:n.4692+5G>A
XM_006721106.3:c.4692+5G>A	XP_006721169.1:n.4692+5G>A
XM_011545994.1:c.4692+5G>A	XP_011544296.1:n.4692+5G>A
XM_011545995.1:c.4692+5G>A	XP_011544297.1:n.4692+5G>A
XM_011545996.1:c.4692+5G>A	XP_011544298.1:n.4692+5G>A
XM_017023909.1:c.4692+5G>A	XP_016879398.1:n.4692+5G>A
XM_024450499.1:c.4692+5G>A	XP_024306267.1:n.4692+5G>A