Canonical Allele Identifier: CA354209
Gene: SETD1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30963431A>G , CM000678.2:g.30963431A>G GRCh38
NC_000016.9:g.30974752A>G , CM000678.1:g.30974752A>G GRCh37
NC_000016.8:g.30882253A>G NCBI36
NG_052948.1:g.11138A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710314.1:c.518-2A>G ENSP00000518195.1:n.518-2A>G
ENST00000682768.1:c.518-2A>G ENSP00000508271.1:n.518-2A>G
ENST00000684162.1:c.518-2A>G ENSP00000507683.1:n.518-2A>G
ENST00000262519.14:c.518-2A>G MANE Select ENSP00000262519.8:n.518-2A>G
ENST00000262519.12:c.518-2A>G ENSP00000262519.8:n.518-2A>G
ENST00000452917.1:c.518-2A>G ENSP00000391408.1:n.518-2A>G
NM_014712.2:c.518-2A>G NP_055527.1:n.518-2A>G
XM_005255723.1:c.518-2A>G XP_005255780.1:n.518-2A>G
XM_006721106.2:c.518-2A>G XP_006721169.1:n.518-2A>G
XM_011545994.1:c.518-2A>G XP_011544296.1:n.518-2A>G
XM_011545995.1:c.518-2A>G XP_011544297.1:n.518-2A>G
XM_011545996.1:c.518-2A>G XP_011544298.1:n.518-2A>G
XM_006721106.3:c.518-2A>G XP_006721169.1:n.518-2A>G
XM_017023909.1:c.518-2A>G XP_016879398.1:n.518-2A>G
XM_024450499.1:c.518-2A>G XP_024306267.1:n.518-2A>G
NM_014712.3:c.518-2A>G MANE Select NP_055527.1:n.518-2A>G
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