Canonical Allele Identifier: CA394765231
Gene: LITAF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11553562C>A , CM000678.2:g.11553562C>A GRCh38
NC_000016.9:g.11647418C>A , CM000678.1:g.11647418C>A GRCh37
NC_000016.8:g.11554919C>A NCBI36
NG_009008.1:g.38389G>T , LRG_253:g.38389G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622633.5:c.348G>T MANE Select ENSP00000483114.1:p.Trp116Cys
ENST00000339430.9:c.348G>T ENSP00000340118.5:p.Trp116Cys
ENST00000381810.7:c.348G>T ENSP00000371231.3:p.Trp116Cys
ENST00000413364.6:c.348G>T ENSP00000397958.2:p.Trp116Cys
ENST00000570798.5:c.348G>T ENSP00000458871.1:p.Trp116Cys
ENST00000570904.5:c.348G>T ENSP00000459138.1:p.Trp116Cys
ENST00000571459.5:c.220+2949G>T ENSP00000459603.1:n.220+2949G>T
ENST00000571627.5:c.348G>T ENSP00000460743.1:p.Trp116Cys
ENST00000571688.5:c.348G>T ENSP00000459533.1:p.Trp116Cys
ENST00000571976.1:c.348G>T ENSP00000460133.1:p.Trp116Cys
ENST00000572255.5:c.69G>T ENSP00000458836.1:p.Trp23Cys
ENST00000573332.5:c.*161G>T ENSP00000460873.1:n.*161G>T
ENST00000574701.5:c.348G>T ENSP00000458981.1:p.Trp116Cys
ENST00000574763.5:c.348G>T ENSP00000461813.1:p.Trp116Cys
ENST00000575426.1:c.167G>T
ENST00000576036.5:c.348G>T ENSP00000461667.1:p.Trp116Cys
ENST00000620789.4:c.348G>T ENSP00000481589.1:p.Trp116Cys
ENST00000622633.4:c.348G>T ENSP00000483114.1:p.Trp116Cys
NM_001136472.1:c.348G>T NP_001129944.1:p.Trp116Cys
NM_001136473.1:c.348G>T , LRG_253t1:c.348G>T NP_001129945.1:p.Trp116Cys
NM_004862.3:c.348G>T NP_004853.2:p.Trp116Cys
NR_024320.1:n.482G>T
XM_006720982.2:c.348G>T XP_006721045.1:p.Trp116Cys
XM_006720983.2:c.348G>T XP_006721046.1:p.Trp116Cys
XM_006720984.2:c.348G>T XP_006721047.1:p.Trp116Cys
XM_006720985.2:c.348G>T XP_006721048.1:p.Trp116Cys
XM_011522754.1:c.438G>T XP_011521056.1:p.Trp146Cys
XM_006720982.3:c.348G>T XP_006721045.1:p.Trp116Cys
XM_006720983.4:c.348G>T XP_006721046.1:p.Trp116Cys
XM_006720984.4:c.348G>T XP_006721047.1:p.Trp116Cys
XM_006720985.3:c.348G>T XP_006721048.1:p.Trp116Cys
XM_011522754.3:c.438G>T XP_011521056.1:p.Trp146Cys
XM_017023896.1:c.348G>T XP_016879385.1:p.Trp116Cys
NM_001136472.2:c.348G>T MANE Select NP_001129944.1:p.Trp116Cys
NM_004862.4:c.348G>T NP_004853.2:p.Trp116Cys
NR_024320.2:n.482G>T