Canonical Allele Identifier: CA4196695
Community Standard Title: NM_002141.5(HOXA4):c.880C>A (p.Pro294Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.27129308G>T , CM000669.2:g.27129308G>T GRCh38
NC_000007.13:g.27168927G>T , CM000669.1:g.27168927G>T GRCh37
NC_000007.12:g.27135452G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002141.5:c.880C>A (HOXA4) MANE Select NP_002132.3:p.Pro294Thr
NM_153631.3:c.-389-2238C>A (HOXA3) MANE Select NP_705895.1:n.-389-2238C>A
ENST00000360046.10:c.880C>A (HOXA4) MANE Select ENSP00000353151.5:p.Pro294Thr
ENST00000612286.5:c.-389-2238C>A (HOXA3) MANE Select ENSP00000484411.1:n.-389-2238C>A
NM_001384335.1:c.-505-2238C>A (HOXA3) NP_001371264.1:n.-505-2238C>A
NM_001384336.1:c.-204-6666C>A (HOXA3) NP_001371265.1:n.-204-6666C>A
NM_001384337.1:c.-677-2238C>A (HOXA3) NP_001371266.1:n.-677-2238C>A
NM_001384338.1:c.-204-6666C>A (HOXA3) NP_001371267.1:n.-204-6666C>A
NM_001384339.1:c.-505-2238C>A (HOXA3) NP_001371268.1:n.-505-2238C>A
NM_001384340.1:c.-389-2238C>A (HOXA3) NP_001371269.1:n.-389-2238C>A
NM_002141.4:c.880C>A (HOXA4) NP_002132.3:p.Pro294Thr
ENST00000317201.6:c.-389-2238C>A (HOXA3) ENSP00000324884.2:n.-389-2238C>A
ENST00000317201.7:c.-389-2238C>A (HOXA3) ENSP00000324884.2:n.-389-2238C>A
ENST00000360046.9:c.880C>A (HOXA4) ENSP00000353151.5:p.Pro294Thr
ENST00000428284.2:c.880C>A (HOXA4) ENSP00000408845.2:p.Pro294Thr
ENST00000511914.1:c.338C>A (HOXA4)
ENST00000518451.1:n.399-2238C>A (HOXA3)
ENST00000521401.1:n.144-2238C>A (HOXA3)
ENST00000522788.5:c.-204-6666C>A (HOXA3) ENSP00000429426.1:n.-204-6666C>A
ENST00000610970.1:c.880C>A (HOXA4) ENSP00000479166.1:p.Pro294Thr
XM_005249730.2:c.-389-2238C>A (HOXA3) XP_005249787.1:n.-389-2238C>A
XM_006715715.2:c.-505-2238C>A (HOXA3) XP_006715778.1:n.-505-2238C>A
XM_011515343.3:c.-3653-2238C>A (HOXA3) XP_011513645.1:n.-3653-2238C>A