Canonical Allele Identifier: CA13108257
Gene: COL27A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114228791G>A , CM000671.2:g.114228791G>A GRCh38
NC_000009.11:g.116991071G>A , CM000671.1:g.116991071G>A GRCh37
NC_000009.10:g.116030892G>A NCBI36
NG_034260.1:g.78247G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356083.8:c.2467-2288G>A MANE Select ENSP00000348385.3:n.2467-2288G>A
ENST00000356083.7:c.2467-2288G>A ENSP00000348385.3:n.2467-2288G>A
ENST00000494090.6:c.1361-2288G>A
NM_032888.3:c.2467-2288G>A NP_116277.2:n.2467-2288G>A
XM_006717308.2:c.2413-2288G>A XP_006717371.1:n.2413-2288G>A
XM_006717310.2:c.148-2288G>A XP_006717373.1:n.148-2288G>A
XM_011519138.1:c.2461-2288G>A XP_011517440.1:n.2461-2288G>A
XM_011519139.1:c.2443-2288G>A XP_011517441.1:n.2443-2288G>A
XM_011519140.1:c.2467-2288G>A XP_011517442.1:n.2467-2288G>A
XM_011519141.1:c.2467-2288G>A XP_011517443.1:n.2467-2288G>A
XM_011519142.1:c.2467-2288G>A XP_011517444.1:n.2467-2288G>A
XM_011519143.1:c.2467-2288G>A XP_011517445.1:n.2467-2288G>A
XM_011519144.1:c.2467-2288G>A XP_011517446.1:n.2467-2288G>A
XM_011519145.1:c.34-2288G>A XP_011517447.1:n.34-2288G>A
XR_929860.1:n.2943-2288G>A
XR_929861.1:n.2944-2288G>A
XR_929862.1:n.2945-2288G>A
XR_929863.1:n.2945-2288G>A
XM_006717310.3:c.148-2288G>A XP_006717373.1:n.148-2288G>A
XM_011519138.2:c.2461-2288G>A XP_011517440.1:n.2461-2288G>A
XM_011519142.3:c.2467-2288G>A XP_011517444.1:n.2467-2288G>A
XM_011519143.2:c.2467-2288G>A XP_011517445.1:n.2467-2288G>A
XM_011519144.2:c.2467-2288G>A XP_011517446.1:n.2467-2288G>A
XM_011519145.3:c.34-2288G>A XP_011517447.1:n.34-2288G>A
XM_017015239.1:c.2467-2288G>A XP_016870728.1:n.2467-2288G>A
XR_001746405.1:n.2945-2288G>A
XR_929860.3:n.2944-2288G>A
XR_929861.2:n.2945-2288G>A
NM_032888.4:c.2467-2288G>A MANE Select NP_116277.2:n.2467-2288G>A
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