Canonical Allele Identifier: CA385106139

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54033417T>A , CM000674.2:g.54033417T>A GRCh38
NC_000012.11:g.54427201T>A , CM000674.1:g.54427201T>A GRCh37
NC_000012.10:g.52713468T>A NCBI36
NG_029818.1:g.21560T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312492.3:c.295T>A (HOXC5) MANE Select ENSP00000309336.2:p.Tyr99Asn
ENST00000303406.4:c.-124+16003T>A (HOXC4) ENSP00000305973.4:n.-124+16003T>A
ENST00000312492.2:c.295T>A (HOXC5) ENSP00000309336.2:p.Tyr99Asn
ENST00000513209.1:c.167-861T>A ENSP00000476742.1:n.167-861T>A
NM_014620.5:c.-124+16003T>A (HOXC4) NP_055435.2:n.-124+16003T>A
NM_018953.3:c.295T>A (HOXC5) NP_061826.1:p.Tyr99Asn
NR_003084.2:n.564-861T>A (HOXC5)
NM_014620.6:c.-124+16003T>A (HOXC4) NP_055435.2:n.-124+16003T>A
NR_003084.3:n.528-861T>A (HOXC5)
NM_018953.4:c.295T>A (HOXC5) MANE Select NP_061826.1:p.Tyr99Asn