Canonical Allele Identifier: CA385106129

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54033412G>T , CM000674.2:g.54033412G>T GRCh38
NC_000012.11:g.54427196G>T , CM000674.1:g.54427196G>T GRCh37
NC_000012.10:g.52713463G>T NCBI36
NG_029818.1:g.21555G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312492.3:c.290G>T (HOXC5) MANE Select ENSP00000309336.2:p.Gly97Val
ENST00000303406.4:c.-124+15998G>T (HOXC4) ENSP00000305973.4:n.-124+15998G>T
ENST00000312492.2:c.290G>T (HOXC5) ENSP00000309336.2:p.Gly97Val
ENST00000513209.1:c.167-866G>T ENSP00000476742.1:n.167-866G>T
NM_014620.5:c.-124+15998G>T (HOXC4) NP_055435.2:n.-124+15998G>T
NM_018953.3:c.290G>T (HOXC5) NP_061826.1:p.Gly97Val
NR_003084.2:n.564-866G>T (HOXC5)
NM_014620.6:c.-124+15998G>T (HOXC4) NP_055435.2:n.-124+15998G>T
NR_003084.3:n.528-866G>T (HOXC5)
NM_018953.4:c.290G>T (HOXC5) MANE Select NP_061826.1:p.Gly97Val