Canonical Allele Identifier: CA15620340
Gene: COL27A1 HGNC NCBI

Linked Data

dbSNP Id: rs1249719

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114235944G>A , CM000671.2:g.114235944G>A GRCh38
NC_000009.11:g.116998224G>A , CM000671.1:g.116998224G>A GRCh37
NC_000009.10:g.116038045G>A NCBI36
NG_034260.1:g.85400G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356083.8:c.2619+292G>A MANE Select ENSP00000348385.3:n.2619+292G>A
ENST00000356083.7:c.2619+292G>A ENSP00000348385.3:n.2619+292G>A
ENST00000494090.6:c.1505+292G>A
NM_032888.3:c.2619+292G>A NP_116277.2:n.2619+292G>A
XM_006717308.2:c.2565+292G>A XP_006717371.1:n.2565+292G>A
XM_006717310.2:c.300+292G>A XP_006717373.1:n.300+292G>A
XM_011519138.1:c.2613+292G>A XP_011517440.1:n.2613+292G>A
XM_011519139.1:c.2595+292G>A XP_011517441.1:n.2595+292G>A
XM_011519140.1:c.2619+292G>A XP_011517442.1:n.2619+292G>A
XM_011519141.1:c.2619+292G>A XP_011517443.1:n.2619+292G>A
XM_011519142.1:c.2619+292G>A XP_011517444.1:n.2619+292G>A
XM_011519143.1:c.2619+292G>A XP_011517445.1:n.2619+292G>A
XM_011519144.1:c.2619+292G>A XP_011517446.1:n.2619+292G>A
XM_011519145.1:c.186+292G>A XP_011517447.1:n.186+292G>A
XR_929860.1:n.3095+292G>A
XR_929861.1:n.3096+292G>A
XR_929862.1:n.3097+292G>A
XR_929863.1:n.3097+292G>A
XM_006717310.3:c.300+292G>A XP_006717373.1:n.300+292G>A
XM_011519138.2:c.2613+292G>A XP_011517440.1:n.2613+292G>A
XM_011519142.3:c.2619+292G>A XP_011517444.1:n.2619+292G>A
XM_011519143.2:c.2619+292G>A XP_011517445.1:n.2619+292G>A
XM_011519144.2:c.2619+292G>A XP_011517446.1:n.2619+292G>A
XM_011519145.3:c.186+292G>A XP_011517447.1:n.186+292G>A
XM_017015239.1:c.2619+292G>A XP_016870728.1:n.2619+292G>A
XR_001746405.1:n.3097+292G>A
XR_929860.3:n.3096+292G>A
XR_929861.2:n.3097+292G>A
NM_032888.4:c.2619+292G>A MANE Select NP_116277.2:n.2619+292G>A