Canonical Allele Identifier: CA12998280
Gene: COL27A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114283167G>A , CM000671.2:g.114283167G>A GRCh38
NC_000009.11:g.117045447G>A , CM000671.1:g.117045447G>A GRCh37
NC_000009.10:g.116085268G>A NCBI36
NG_034260.1:g.132623G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356083.8:c.3880-542G>A MANE Select ENSP00000348385.3:n.3880-542G>A
ENST00000356083.7:c.3880-542G>A ENSP00000348385.3:n.3880-542G>A
ENST00000494090.6:c.2773-542G>A
NM_032888.3:c.3880-542G>A NP_116277.2:n.3880-542G>A
XM_006717308.2:c.3826-542G>A XP_006717371.1:n.3826-542G>A
XM_006717310.2:c.1561-542G>A XP_006717373.1:n.1561-542G>A
XM_011519138.1:c.3874-542G>A XP_011517440.1:n.3874-542G>A
XM_011519139.1:c.3856-542G>A XP_011517441.1:n.3856-542G>A
XM_011519140.1:c.3826-542G>A XP_011517442.1:n.3826-542G>A
XM_011519141.1:c.3880-542G>A XP_011517443.1:n.3880-542G>A
XM_011519142.1:c.3800-641G>A XP_011517444.1:n.3800-641G>A
XM_011519143.1:c.3880-542G>A XP_011517445.1:n.3880-542G>A
XM_011519144.1:c.3880-542G>A XP_011517446.1:n.3880-542G>A
XM_011519145.1:c.1447-542G>A XP_011517447.1:n.1447-542G>A
XR_929860.1:n.4356-542G>A
XR_929861.1:n.4357-542G>A
XM_006717310.3:c.1561-542G>A XP_006717373.1:n.1561-542G>A
XM_011519138.2:c.3874-542G>A XP_011517440.1:n.3874-542G>A
XM_011519142.3:c.3800-641G>A XP_011517444.1:n.3800-641G>A
XM_011519143.2:c.3880-542G>A XP_011517445.1:n.3880-542G>A
XM_011519144.2:c.3880-542G>A XP_011517446.1:n.3880-542G>A
XM_011519145.3:c.1447-542G>A XP_011517447.1:n.1447-542G>A
XR_001746405.1:n.4358-542G>A
XR_929860.3:n.4357-542G>A
XR_929861.2:n.4358-542G>A
NM_032888.4:c.3880-542G>A MANE Select NP_116277.2:n.3880-542G>A