Canonical Allele Identifier: CA3515264

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150896549A>G , CM000667.2:g.150896549A>G GRCh38
NC_000005.9:g.150276111A>G , CM000667.1:g.150276111A>G GRCh37
NC_000005.8:g.150256304A>G NCBI36
NG_016866.1:g.13435T>C
NG_027809.2:g.55027A>G

Transcript Alleles

HGVS Amino-acid Change
NM_052860.4:c.690T>C (ZNF300) MANE Select NP_443092.1:p.Asn230=
ENST00000274599.10:c.690T>C (ZNF300) MANE Select ENSP00000274599.5:p.Asn230=
NM_001172831.1:c.738T>C (ZNF300) NP_001166302.1:p.Asn246=
NM_001172831.3:c.738T>C (ZNF300) NP_001166302.1:p.Asn246=
NM_001172832.1:c.582T>C (ZNF300) NP_001166303.1:p.Asn194=
NM_001172832.3:c.582T>C (ZNF300) NP_001166303.1:p.Asn194=
NM_001346557.1:c.594-4040A>G (IRGM) NP_001333486.1:n.594-4040A>G
NM_001346557.2:c.594-4040A>G (IRGM) NP_001333486.1:n.594-4040A>G
NM_052860.2:c.690T>C (ZNF300) NP_443092.1:p.Asn230=
NR_170598.1:n.1844-4040A>G (IRGM)
ENST00000274599.9:c.690T>C (ZNF300) ENSP00000274599.5:p.Asn230=
ENST00000394226.2:c.690T>C (ZNF300) ENSP00000377773.2:p.Asn230=
ENST00000418587.6:c.582T>C (ZNF300) ENSP00000392593.2:p.Asn194=
ENST00000427179.5:c.*1505T>C (ZNF300) ENSP00000414195.1:n.*1505T>C
ENST00000446148.6:c.738T>C (ZNF300) ENSP00000397178.2:p.Asn246=
ENST00000446148.7:c.690T>C (ZNF300) ENSP00000397178.3:p.Asn230=
ENST00000520549.1:c.356-4040A>G (IRGM)
XM_006714806.1:c.690T>C (ZNF300) XP_006714869.1:p.Asn230=
XM_011537641.1:c.594-4040A>G (IRGM) XP_011535943.1:n.594-4040A>G
XM_011537702.1:c.705T>C (ZNF300) XP_011536004.1:p.Asn235=
XM_011537702.2:c.705T>C (ZNF300) XP_011536004.1:p.Asn235=
XM_011537703.1:c.705T>C (ZNF300) XP_011536005.1:p.Asn235=