Canonical Allele Identifier: CA8411595
Community Standard Title: NM_001113567.3(LRRC75A):c.692G>A (p.Arg231His)
Gene: LRRC75A HGNC NCBI
SNHG29 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16443931C>T , CM000679.2:g.16443931C>T GRCh38
NC_000017.10:g.16347245C>T , CM000679.1:g.16347245C>T GRCh37
NC_000017.9:g.16287970C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001113567.3:c.692G>A (LRRC75A) MANE Select NP_001107039.1:p.Arg231His
ENST00000470794.2:c.692G>A (LRRC75A) MANE Select ENSP00000419502.1:p.Arg231His
NM_001113567.2:c.692G>A (LRRC75A) NP_001107039.1:p.Arg231His
NM_207387.3:c.576G>A (LRRC75A) NP_997270.2:p.Pro192=
NM_207387.4:c.576G>A (LRRC75A) NP_997270.2:p.Pro192=
NR_027171.1:n.554+2801C>T (SNHG29)
NR_027172.2:n.257+2801C>T (SNHG29)
NR_027173.1:n.288+2801C>T (SNHG29)
NR_027174.1:n.288+2801C>T (SNHG29)
NR_027175.1:n.288+2801C>T (SNHG29)
NR_027176.1:n.231+3678C>T (SNHG29)
NR_027177.1:n.288+2801C>T (SNHG29)
NR_027178.1:n.288+2801C>T (SNHG29)
NR_045023.1:n.231+3678C>T (SNHG29)
NR_045025.1:n.200+2801C>T (SNHG29)
ENST00000409083.7:c.576G>A (LRRC75A) ENSP00000386504.3:p.Pro192=
ENST00000409887.3:n.803G>A (LRRC75A)
ENST00000470794.1:c.692G>A (LRRC75A) ENSP00000419502.1:p.Arg231His
XM_011523845.1:c.*244G>A (LRRC75A) XP_011522147.1:n.*244G>A
XM_011523845.3:c.*244G>A (LRRC75A) XP_011522147.1:n.*244G>A
XM_017024619.1:c.647G>A (LRRC75A) XP_016880108.1:p.Arg216His
XM_017024620.1:c.566G>A (LRRC75A) XP_016880109.1:p.Arg189His