Canonical Allele Identifier: CA398500870
Community Standard Title: NM_001113567.3(LRRC75A):c.413G>A (p.Arg138Gln)
Gene: LRRC75A HGNC NCBI
SNHG29 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16447923C>T , CM000679.2:g.16447923C>T GRCh38
NC_000017.10:g.16351237C>T , CM000679.1:g.16351237C>T GRCh37
NC_000017.9:g.16291962C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001113567.3:c.413G>A (LRRC75A) MANE Select NP_001107039.1:p.Arg138Gln
ENST00000470794.2:c.413G>A (LRRC75A) MANE Select ENSP00000419502.1:p.Arg138Gln
NM_001113567.2:c.413G>A (LRRC75A) NP_001107039.1:p.Arg138Gln
NM_207387.3:c.376-3792G>A (LRRC75A) NP_997270.2:n.376-3792G>A
NM_207387.4:c.376-3792G>A (LRRC75A) NP_997270.2:n.376-3792G>A
NR_027171.1:n.554+6793C>T (SNHG29)
NR_027172.2:n.257+6793C>T (SNHG29)
NR_027173.1:n.288+6793C>T (SNHG29)
NR_027174.1:n.288+6793C>T (SNHG29)
NR_027175.1:n.288+6793C>T (SNHG29)
NR_027176.1:n.231+7670C>T (SNHG29)
NR_027177.1:n.288+6793C>T (SNHG29)
NR_027178.1:n.288+6793C>T (SNHG29)
NR_045023.1:n.231+7670C>T (SNHG29)
NR_045025.1:n.200+6793C>T (SNHG29)
ENST00000409083.7:c.376-3792G>A (LRRC75A) ENSP00000386504.3:n.376-3792G>A
ENST00000409887.3:n.372G>A (LRRC75A)
ENST00000470794.1:c.413G>A (LRRC75A) ENSP00000419502.1:p.Arg138Gln
XM_011523845.1:c.413G>A (LRRC75A) XP_011522147.1:p.Arg138Gln
XM_011523845.3:c.413G>A (LRRC75A) XP_011522147.1:p.Arg138Gln
XM_017024619.1:c.368G>A (LRRC75A) XP_016880108.1:p.Arg123Gln
XM_017024620.1:c.287G>A (LRRC75A) XP_016880109.1:p.Arg96Gln