Canonical Allele Identifier: CA13195310
Gene: LRMDA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.76397814T>C , CM000672.2:g.76397814T>C GRCh38
NC_000010.10:g.78157572T>C , CM000672.1:g.78157572T>C GRCh37
NC_000010.9:g.77827578T>C NCBI36
NG_042180.1:g.971169T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000611255.5:c.601+73329T>C MANE Select ENSP00000480240.1:n.601+73329T>C
ENST00000372499.5:c.517+73329T>C ENSP00000361577.1:n.517+73329T>C
ENST00000468134.1:n.90+1224T>C
ENST00000488655.5:n.209+51261T>C
ENST00000496424.2:c.88+73329T>C ENSP00000472558.1:n.88+73329T>C
ENST00000593699.5:n.955+73329T>C
ENST00000598708.1:n.85+73329T>C
ENST00000611255.4:c.601+73329T>C ENSP00000480240.1:n.601+73329T>C
NM_001305581.1:c.601+73329T>C NP_001292510.1:n.601+73329T>C
NM_032024.3:c.517+73329T>C NP_114413.1:n.517+73329T>C
NM_032024.4:c.517+73329T>C NP_114413.1:n.517+73329T>C
NR_131178.1:n.955+73329T>C
XM_011540257.1:c.517-159395T>C XP_011538559.1:n.517-159395T>C
XR_945833.1:n.992+51261T>C
NM_001305581.2:c.601+73329T>C MANE Select NP_001292510.1:n.601+73329T>C
NM_032024.5:c.517+73329T>C NP_114413.1:n.517+73329T>C
NR_131178.2:n.955+73329T>C
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