Canonical Allele Identifier: CA15595373
Gene: COL27A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114281072A>G , CM000671.2:g.114281072A>G GRCh38
NC_000009.11:g.117043352A>G , CM000671.1:g.117043352A>G GRCh37
NC_000009.10:g.116083173A>G NCBI36
NG_034260.1:g.130528A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356083.8:c.3718-1205A>G MANE Select ENSP00000348385.3:n.3718-1205A>G
ENST00000356083.7:c.3718-1205A>G ENSP00000348385.3:n.3718-1205A>G
ENST00000494090.6:c.2611-1205A>G
NM_032888.3:c.3718-1205A>G NP_116277.2:n.3718-1205A>G
XM_006717308.2:c.3664-1205A>G XP_006717371.1:n.3664-1205A>G
XM_006717310.2:c.1399-1205A>G XP_006717373.1:n.1399-1205A>G
XM_011519138.1:c.3712-1205A>G XP_011517440.1:n.3712-1205A>G
XM_011519139.1:c.3694-1205A>G XP_011517441.1:n.3694-1205A>G
XM_011519140.1:c.3664-1205A>G XP_011517442.1:n.3664-1205A>G
XM_011519141.1:c.3718-1205A>G XP_011517443.1:n.3718-1205A>G
XM_011519142.1:c.3718-1205A>G XP_011517444.1:n.3718-1205A>G
XM_011519143.1:c.3718-1205A>G XP_011517445.1:n.3718-1205A>G
XM_011519144.1:c.3718-1205A>G XP_011517446.1:n.3718-1205A>G
XM_011519145.1:c.1285-1205A>G XP_011517447.1:n.1285-1205A>G
XR_929860.1:n.4194-1205A>G
XR_929861.1:n.4195-1205A>G
XM_006717310.3:c.1399-1205A>G XP_006717373.1:n.1399-1205A>G
XM_011519138.2:c.3712-1205A>G XP_011517440.1:n.3712-1205A>G
XM_011519142.3:c.3718-1205A>G XP_011517444.1:n.3718-1205A>G
XM_011519143.2:c.3718-1205A>G XP_011517445.1:n.3718-1205A>G
XM_011519144.2:c.3718-1205A>G XP_011517446.1:n.3718-1205A>G
XM_011519145.3:c.1285-1205A>G XP_011517447.1:n.1285-1205A>G
XR_001746405.1:n.4196-1205A>G
XR_929860.3:n.4195-1205A>G
XR_929861.2:n.4196-1205A>G
NM_032888.4:c.3718-1205A>G MANE Select NP_116277.2:n.3718-1205A>G
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