Canonical Allele Identifier: CA8017117

Gene: SETD1A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30969641C>T , CM000678.2:g.30969641C>T	GRCh38
NC_000016.9:g.30980962C>T , CM000678.1:g.30980962C>T	GRCh37
NC_000016.8:g.30888463C>T	NCBI36
NG_052948.1:g.17348C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710314.1:c.2968C>T	ENSP00000518195.1:p.Arg990Ter
ENST00000684162.1:c.2968C>T	ENSP00000507683.1:p.Arg990Ter
ENST00000262519.14:c.2968C>T MANE Select	ENSP00000262519.8:p.Arg990Ter
ENST00000262519.12:c.2968C>T	ENSP00000262519.8:p.Arg990Ter
NM_014712.2:c.2968C>T	NP_055527.1:p.Arg990Ter
XM_005255723.1:c.2968C>T	XP_005255780.1:p.Arg990Ter
XM_006721106.2:c.2968C>T	XP_006721169.1:p.Arg990Ter
XM_011545994.1:c.2968C>T	XP_011544296.1:p.Arg990Ter
XM_011545995.1:c.2968C>T	XP_011544297.1:p.Arg990Ter
XM_011545996.1:c.2968C>T	XP_011544298.1:p.Arg990Ter
XM_006721106.3:c.2968C>T	XP_006721169.1:p.Arg990Ter
XM_017023909.1:c.2968C>T	XP_016879398.1:p.Arg990Ter
XM_024450499.1:c.2968C>T	XP_024306267.1:p.Arg990Ter
NM_014712.3:c.2968C>T MANE Select	NP_055527.1:p.Arg990Ter