Canonical Allele Identifier: CA6605228

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54033171C>A , CM000674.2:g.54033171C>A GRCh38
NC_000012.11:g.54426955C>A , CM000674.1:g.54426955C>A GRCh37
NC_000012.10:g.52713222C>A NCBI36
NG_029818.1:g.21314C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312492.3:c.49C>A (HOXC5) MANE Select ENSP00000309336.2:p.Pro17Thr
ENST00000303406.4:c.-124+15757C>A (HOXC4) ENSP00000305973.4:n.-124+15757C>A
ENST00000312492.2:c.49C>A (HOXC5) ENSP00000309336.2:p.Pro17Thr
ENST00000513209.1:c.167-1107C>A ENSP00000476742.1:n.167-1107C>A
NM_014620.5:c.-124+15757C>A (HOXC4) NP_055435.2:n.-124+15757C>A
NM_018953.3:c.49C>A (HOXC5) NP_061826.1:p.Pro17Thr
NR_003084.2:n.564-1107C>A (HOXC5)
NM_014620.6:c.-124+15757C>A (HOXC4) NP_055435.2:n.-124+15757C>A
NR_003084.3:n.528-1107C>A (HOXC5)
NM_018953.4:c.49C>A (HOXC5) MANE Select NP_061826.1:p.Pro17Thr