Canonical Allele Identifier: CA466776220
Gene: COL27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114155962A>G , CM000671.2:g.114155962A>G GRCh38
NC_000009.11:g.116918242A>G , CM000671.1:g.116918242A>G GRCh37
NC_000009.10:g.115958063A>G NCBI36
NG_034260.1:g.5418A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356083.8:c.12A>G MANE Select ENSP00000348385.3:p.Gly4=
ENST00000356083.7:c.12A>G ENSP00000348385.3:p.Gly4=
NM_032888.3:c.12A>G NP_116277.2:p.Gly4=
XM_006717308.2:c.12A>G XP_006717371.1:p.Gly4=
XM_011519138.1:c.56+1592A>G XP_011517440.1:n.56+1592A>G
XM_011519139.1:c.39-6753A>G XP_011517441.1:n.39-6753A>G
XM_011519140.1:c.12A>G XP_011517442.1:p.Gly4=
XM_011519141.1:c.12A>G XP_011517443.1:p.Gly4=
XM_011519142.1:c.12A>G XP_011517444.1:p.Gly4=
XM_011519143.1:c.12A>G XP_011517445.1:p.Gly4=
XM_011519144.1:c.12A>G XP_011517446.1:p.Gly4=
XR_929860.1:n.488A>G
XR_929861.1:n.489A>G
XR_929862.1:n.490A>G
XR_929863.1:n.490A>G
XM_011519138.2:c.56+1592A>G XP_011517440.1:n.56+1592A>G
XM_011519142.3:c.12A>G XP_011517444.1:p.Gly4=
XM_011519143.2:c.12A>G XP_011517445.1:p.Gly4=
XM_011519144.2:c.12A>G XP_011517446.1:p.Gly4=
XM_017015239.1:c.12A>G XP_016870728.1:p.Gly4=
XR_001746405.1:n.490A>G
XR_929860.3:n.489A>G
XR_929861.2:n.490A>G
NM_032888.4:c.12A>G MANE Select NP_116277.2:p.Gly4=