Canonical Allele Identifier: CA406138462
Community Standard Title: NM_173633.3(TMEM145):c.865C>T (p.Leu289Phe)
Gene: TMEM145 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42316928C>T , CM000681.2:g.42316928C>T GRCh38
NC_000019.9:g.42821080C>T , CM000681.1:g.42821080C>T GRCh37
NC_000019.8:g.47512920C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_173633.3:c.865C>T MANE Select NP_775904.2:p.Leu289Phe
ENST00000301204.8:c.865C>T MANE Select ENSP00000301204.2:p.Leu289Phe
NM_001366910.1:c.907C>T NP_001353839.1:p.Leu303Phe
NM_173633.2:c.865C>T NP_775904.2:p.Leu289Phe
ENST00000301204.7:c.865C>T ENSP00000301204.2:p.Leu289Phe
ENST00000598766.1:c.937C>T ENSP00000470827.1:p.Leu313Phe
ENST00000673187.1:c.907C>T ENSP00000500040.1:p.Leu303Phe
ENST00000673205.1:c.865C>T ENSP00000499841.1:p.Leu289Phe
XM_005258781.3:c.907C>T XP_005258838.1:p.Leu303Phe
XM_011526791.1:c.865C>T XP_011525093.1:p.Leu289Phe
XM_011526791.3:c.865C>T XP_011525093.1:p.Leu289Phe
XM_011526792.1:c.907C>T XP_011525094.1:p.Leu303Phe