Canonical Allele Identifier: CA130294
Community Standard Title: NM_198506.5(LRIT3):c.1151C>G (p.Ser384Ter)
Gene: LRIT3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109869900C>G , CM000666.2:g.109869900C>G GRCh38
NC_000004.11:g.110791056C>G , CM000666.1:g.110791056C>G GRCh37
NC_000004.10:g.111010505C>G NCBI36
NG_033249.1:g.26717C>G

Transcript Alleles

HGVS Amino-acid Change
NM_198506.5:c.1151C>G MANE Select NP_940908.3:p.Ser384Ter
ENST00000594814.6:c.1151C>G MANE Select ENSP00000469759.1:p.Ser384Ter
NM_198506.4:c.1151C>G NP_940908.3:p.Ser384Ter
ENST00000327908.3:c.602C>G ENSP00000328222.3:p.Ser201Ter
ENST00000594814.5:c.1151C>G ENSP00000469759.1:p.Ser384Ter
XM_005262979.2:c.602C>G XP_005263036.1:p.Ser201Ter
XM_017008167.1:c.602C>G XP_016863656.1:p.Ser201Ter