Canonical Allele Identifier: CA241863
Community Standard Title: NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr)
Gene: LRIT3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.109851766G>T , CM000666.2:g.109851766G>T GRCh38
NC_000004.11:g.110772922G>T , CM000666.1:g.110772922G>T GRCh37
NC_000004.10:g.110992371G>T NCBI36
NG_033249.1:g.8583G>T

Transcript Alleles

HGVS Amino-acid Change
NM_198506.5:c.379G>T MANE Select NP_940908.3:p.Asp127Tyr
ENST00000594814.6:c.379G>T MANE Select ENSP00000469759.1:p.Asp127Tyr
NM_198506.4:c.379G>T NP_940908.3:p.Asp127Tyr
ENST00000327908.3:c.-328G>T ENSP00000328222.3:n.-328G>T
ENST00000594814.5:c.379G>T ENSP00000469759.1:p.Asp127Tyr
XM_005262979.2:c.-328G>T XP_005263036.1:n.-328G>T
XM_017008168.1:c.379G>T XP_016863657.1:p.Asp127Tyr