Canonical Allele Identifier: CA395632897

Gene: SETD1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30980506A>C , CM000678.2:g.30980506A>C	GRCh38
NC_000016.9:g.30991827A>C , CM000678.1:g.30991827A>C	GRCh37
NC_000016.8:g.30899328A>C	NCBI36
NG_012346.1:g.309A>C
NG_052948.1:g.28213A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014712.3:c.4430A>C MANE Select	NP_055527.1:p.Lys1477Thr
ENST00000262519.14:c.4430A>C MANE Select	ENSP00000262519.8:p.Lys1477Thr
NM_014712.2:c.4430A>C	NP_055527.1:p.Lys1477Thr
ENST00000262519.12:c.4430A>C	ENSP00000262519.8:p.Lys1477Thr
ENST00000640410.1:n.454A>C
ENST00000684162.1:c.4430A>C	ENSP00000507683.1:p.Lys1477Thr
ENST00000710314.1:c.4430A>C	ENSP00000518195.1:p.Lys1477Thr
XM_005255723.1:c.4430A>C	XP_005255780.1:p.Lys1477Thr
XM_006721106.2:c.4430A>C	XP_006721169.1:p.Lys1477Thr
XM_006721106.3:c.4430A>C	XP_006721169.1:p.Lys1477Thr
XM_011545994.1:c.4430A>C	XP_011544296.1:p.Lys1477Thr
XM_011545995.1:c.4430A>C	XP_011544297.1:p.Lys1477Thr
XM_011545996.1:c.4430A>C	XP_011544298.1:p.Lys1477Thr
XM_017023909.1:c.4430A>C	XP_016879398.1:p.Lys1477Thr
XM_024450499.1:c.4430A>C	XP_024306267.1:p.Lys1477Thr