Canonical Allele Identifier: CA150112704
Community Standard Title: NM_017909.4(RMND1):c.830+297C>T
Gene: RMND1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151427185G>A , CM000668.2:g.151427185G>A GRCh38
NC_000006.11:g.151748320G>A , CM000668.1:g.151748320G>A GRCh37
NC_000006.10:g.151790013G>A NCBI36
NG_033031.1:g.29997C>T

Transcript Alleles

HGVS Amino-acid Change
NM_017909.4:c.830+297C>T MANE Select NP_060379.2:n.830+297C>T
ENST00000444024.3:c.830+297C>T MANE Select ENSP00000412708.2:n.830+297C>T
NM_001271937.1:c.320+297C>T NP_001258866.1:n.320+297C>T
NM_001271937.2:c.320+297C>T NP_001258866.1:n.320+297C>T
NM_017909.3:c.830+297C>T NP_060379.2:n.830+297C>T
ENST00000336451.7:c.197+297C>T ENSP00000336683.3:n.197+297C>T
ENST00000336451.8:c.*229+297C>T ENSP00000336683.4:n.*229+297C>T
ENST00000367303.8:c.830+297C>T ENSP00000356272.4:n.830+297C>T
ENST00000444024.1:c.320+297C>T ENSP00000412708.1:n.320+297C>T
ENST00000622845.4:c.320+297C>T ENSP00000481280.1:n.320+297C>T
ENST00000622845.5:c.320+297C>T ENSP00000481280.1:n.320+297C>T
ENST00000643550.1:n.624+297C>T
ENST00000644054.1:c.753+297C>T
ENST00000644054.2:c.*112+297C>T ENSP00000496328.2:n.*112+297C>T
ENST00000644711.1:c.830+297C>T ENSP00000494106.1:n.830+297C>T
ENST00000645367.1:n.873+2953C>T
ENST00000645895.1:n.947+297C>T
ENST00000646926.1:c.238+297C>T
ENST00000646926.2:c.830+297C>T ENSP00000494215.2:n.830+297C>T
ENST00000682004.1:n.1001+297C>T
ENST00000682299.1:c.830+297C>T ENSP00000506811.1:n.830+297C>T
ENST00000682392.1:c.830+297C>T ENSP00000508314.1:n.830+297C>T
ENST00000682641.1:c.830+297C>T ENSP00000506793.1:n.830+297C>T
ENST00000683439.1:n.975+297C>T
ENST00000683724.1:c.830+297C>T ENSP00000507984.1:n.830+297C>T
ENST00000684301.1:c.*229+297C>T ENSP00000507824.1:n.*229+297C>T
ENST00000684605.1:n.1370+297C>T
ENST00000684658.1:n.975+297C>T
ENST00000684715.1:n.975+297C>T
ENST00000684765.1:c.830+297C>T ENSP00000507910.1:n.830+297C>T
XM_005267040.2:c.197+297C>T XP_005267097.1:n.197+297C>T
XM_005267040.4:c.197+297C>T XP_005267097.1:n.197+297C>T
XM_017010988.2:c.197+297C>T XP_016866477.1:n.197+297C>T
XR_001743503.2:n.998+297C>T
XR_002956288.1:n.955+297C>T
XR_942497.1:n.1010+297C>T