Canonical Allele Identifier: CA1591154244

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150898347A>T , CM000667.2:g.150898347A>T GRCh38
NC_000005.9:g.150277909A>T , CM000667.1:g.150277909A>T GRCh37
NC_000005.8:g.150258102A>T NCBI36
NG_016866.1:g.11637T>A
NG_027809.2:g.56825A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446148.7:c.142+81T>A (ZNF300) ENSP00000397178.3:n.142+81T>A
ENST00000274599.10:c.142+81T>A (ZNF300) MANE Select ENSP00000274599.5:n.142+81T>A
ENST00000274599.9:c.142+81T>A (ZNF300) ENSP00000274599.5:n.142+81T>A
ENST00000394226.2:c.142+81T>A (ZNF300) ENSP00000377773.2:n.142+81T>A
ENST00000418587.6:c.34+81T>A (ZNF300) ENSP00000392593.2:n.34+81T>A
ENST00000427179.5:c.142+81T>A (ZNF300) ENSP00000414195.1:n.142+81T>A
ENST00000446148.6:c.190+81T>A (ZNF300) ENSP00000397178.2:n.190+81T>A
ENST00000520549.1:c.356-2242A>T (IRGM)
NM_001172831.1:c.190+81T>A (ZNF300) NP_001166302.1:n.190+81T>A
NM_001172832.1:c.34+81T>A (ZNF300) NP_001166303.1:n.34+81T>A
NM_052860.2:c.142+81T>A (ZNF300) NP_443092.1:n.142+81T>A
XM_006714806.1:c.142+81T>A (ZNF300) XP_006714869.1:n.142+81T>A
XM_011537641.1:c.594-2242A>T (IRGM) XP_011535943.1:n.594-2242A>T
XM_011537702.1:c.157+81T>A (ZNF300) XP_011536004.1:n.157+81T>A
XM_011537703.1:c.157+81T>A (ZNF300) XP_011536005.1:n.157+81T>A
XR_944324.1:n.164+1216A>T (IRGM)
NM_001346557.1:c.594-2242A>T (IRGM) NP_001333486.1:n.594-2242A>T
XM_011537702.2:c.157+81T>A (ZNF300) XP_011536004.1:n.157+81T>A
NM_001346557.2:c.594-2242A>T (IRGM) NP_001333486.1:n.594-2242A>T
NM_001172831.3:c.190+81T>A (ZNF300) NP_001166302.1:n.190+81T>A
NM_001172832.3:c.34+81T>A (ZNF300) NP_001166303.1:n.34+81T>A
NM_052860.4:c.142+81T>A (ZNF300) MANE Select NP_443092.1:n.142+81T>A
NR_170598.1:n.1844-2242A>T (IRGM)