Canonical Allele Identifier: CA10496418
Gene: LRCH2 HGNC NCBI
RBMXL3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.115191663A>G , CM000685.2:g.115191663A>G GRCh38
NC_000023.10:g.114426226A>G , CM000685.1:g.114426226A>G GRCh37
NC_000023.9:g.114332482A>G NCBI36
NG_021299.1:g.47410T>C
NG_021299.2:g.47410T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001145346.2:c.2222A>G (RBMXL3) MANE Select NP_001138818.1:p.Tyr741Cys
NM_020871.4:c.350-3293T>C (LRCH2) MANE Select NP_065922.3:n.350-3293T>C
ENST00000317135.13:c.350-3293T>C (LRCH2) MANE Select ENSP00000325091.8:n.350-3293T>C
ENST00000424776.5:c.2222A>G (RBMXL3) MANE Select ENSP00000417451.3:p.Tyr741Cys
NM_001145346.1:c.2222A>G (RBMXL3) NP_001138818.1:p.Tyr741Cys
NM_001243963.1:c.350-3293T>C (LRCH2) NP_001230892.1:n.350-3293T>C
NM_001243963.2:c.350-3293T>C (LRCH2) NP_001230892.1:n.350-3293T>C
NM_020871.3:c.350-3293T>C (LRCH2) NP_065922.3:n.350-3293T>C
ENST00000317135.12:c.350-3293T>C (LRCH2) ENSP00000325091.8:n.350-3293T>C
ENST00000424776.4:c.2222A>G (RBMXL3) ENSP00000417451.2:p.Tyr741Cys
ENST00000538422.2:c.350-3293T>C (LRCH2) ENSP00000439366.1:n.350-3293T>C
XM_006724724.2:c.350-3293T>C (LRCH2) XP_006724787.2:n.350-3293T>C
XM_006724724.3:c.350-3293T>C (LRCH2) XP_006724787.2:n.350-3293T>C
XM_017029696.2:c.350-3293T>C (LRCH2) XP_016885185.1:n.350-3293T>C