Canonical Allele Identifier: CA12846568
Community Standard Title: NM_021110.4(COL14A1):c.1192-76G>A
Gene: COL14A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.120208156G>A , CM000670.2:g.120208156G>A GRCh38
NC_000008.10:g.121220395G>A , CM000670.1:g.121220395G>A GRCh37
NC_000008.9:g.121289576G>A NCBI36
NG_033107.1:g.88049G>A

Transcript Alleles

HGVS Amino-acid Change
NM_021110.4:c.1192-76G>A MANE Select NP_066933.1:n.1192-76G>A
ENST00000297848.8:c.1192-76G>A MANE Select ENSP00000297848.3:n.1192-76G>A
NM_001384947.1:c.1192-76G>A NP_001371876.1:n.1192-76G>A
NM_021110.2:c.1192-76G>A NP_066933.1:n.1192-76G>A
NM_021110.3:c.1192-76G>A NP_066933.1:n.1192-76G>A
ENST00000297848.7:c.1192-76G>A ENSP00000297848.3:n.1192-76G>A
ENST00000309791.8:c.1192-76G>A ENSP00000311809.4:n.1192-76G>A
ENST00000432943.6:n.1426-76G>A
ENST00000434620.5:c.631-76G>A ENSP00000409461.1:n.631-76G>A
ENST00000498051.6:c.1192-76G>A ENSP00000428851.1:n.1192-76G>A
ENST00000523142.5:c.461-76G>A
ENST00000537875.2:c.1192-76G>A ENSP00000443974.1:n.1192-76G>A
XM_005251059.2:c.1192-76G>A XP_005251116.1:n.1192-76G>A
XM_005251059.4:c.1192-76G>A XP_005251116.1:n.1192-76G>A
XM_006716651.2:c.1192-76G>A XP_006716714.1:n.1192-76G>A
XM_006716651.3:c.1192-76G>A XP_006716714.1:n.1192-76G>A
XM_017013809.2:c.1192-76G>A XP_016869298.1:n.1192-76G>A