Canonical Allele Identifier: CA278252977
Community Standard Title: NM_001136472.2(LITAF):c.-6+862G>C
Gene: LITAF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.11586024C>G , CM000678.2:g.11586024C>G GRCh38
NC_000016.9:g.11679880C>G , CM000678.1:g.11679880C>G GRCh37
NC_000016.8:g.11587381C>G NCBI36
NG_009008.1:g.5927G>C , LRG_253:g.5927G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001136472.2:c.-6+862G>C MANE Select NP_001129944.1:n.-6+862G>C
ENST00000622633.5:c.-6+862G>C MANE Select ENSP00000483114.1:n.-6+862G>C
NM_001136472.1:c.-6+862G>C NP_001129944.1:n.-6+862G>C
NM_001136473.1:c.-6+862G>C , LRG_253t1:c.-6+862G>C NP_001129945.1:n.-6+862G>C
NM_004862.3:c.-6+122G>C NP_004853.2:n.-6+122G>C
NM_004862.4:c.-6+122G>C NP_004853.2:n.-6+122G>C
NR_024320.1:n.129+1314G>C
NR_024320.2:n.129+1314G>C
ENST00000339430.9:c.-6+122G>C ENSP00000340118.5:n.-6+122G>C
ENST00000413364.6:c.-6+862G>C ENSP00000397958.2:n.-6+862G>C
ENST00000570798.5:c.-149+862G>C ENSP00000458871.1:n.-149+862G>C
ENST00000570904.5:c.-6+1127G>C ENSP00000459138.1:n.-6+1127G>C
ENST00000571277.1:c.-435+862G>C ENSP00000459026.1:n.-435+862G>C
ENST00000571459.5:c.-6+862G>C ENSP00000459603.1:n.-6+862G>C
ENST00000571627.5:c.-6+12364G>C ENSP00000460743.1:n.-6+12364G>C
ENST00000571688.5:c.-6+1314G>C ENSP00000459533.1:n.-6+1314G>C
ENST00000571976.1:c.-6+862G>C ENSP00000460133.1:n.-6+862G>C
ENST00000572255.5:c.-241+862G>C ENSP00000458836.1:n.-241+862G>C
ENST00000573332.5:c.-6+862G>C ENSP00000460873.1:n.-6+862G>C
ENST00000574701.5:c.-6+1127G>C ENSP00000458981.1:n.-6+1127G>C
ENST00000574703.5:c.-6+862G>C ENSP00000459913.1:n.-6+862G>C
ENST00000574763.5:c.-187+862G>C ENSP00000461813.1:n.-187+862G>C
ENST00000574848.5:c.86-29289G>C ENSP00000459898.1:n.86-29289G>C
ENST00000576036.5:c.-5-29289G>C ENSP00000461667.1:n.-5-29289G>C
ENST00000576334.1:c.86-29289G>C ENSP00000458538.1:n.86-29289G>C
ENST00000620789.4:c.-6+122G>C ENSP00000481589.1:n.-6+122G>C
ENST00000622633.4:c.-6+862G>C ENSP00000483114.1:n.-6+862G>C
XM_006720982.2:c.-6+1127G>C XP_006721045.1:n.-6+1127G>C
XM_006720982.3:c.-6+1127G>C XP_006721045.1:n.-6+1127G>C
XM_011522754.1:c.86-29289G>C XP_011521056.1:n.86-29289G>C
XM_011522754.3:c.86-29289G>C XP_011521056.1:n.86-29289G>C
XM_017023896.1:c.-5-29289G>C XP_016879385.1:n.-5-29289G>C