Canonical Allele Identifier: CA5200965

Gene: COL27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114155957G>A , CM000671.2:g.114155957G>A	GRCh38
NC_000009.11:g.116918237G>A , CM000671.1:g.116918237G>A	GRCh37
NC_000009.10:g.115958058G>A	NCBI36
NG_034260.1:g.5413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356083.8:c.7G>A MANE Select	ENSP00000348385.3:p.Ala3Thr
ENST00000356083.7:c.7G>A	ENSP00000348385.3:p.Ala3Thr
NM_032888.3:c.7G>A	NP_116277.2:p.Ala3Thr
XM_006717308.2:c.7G>A	XP_006717371.1:p.Ala3Thr
XM_011519138.1:c.56+1587G>A	XP_011517440.1:n.56+1587G>A
XM_011519139.1:c.39-6758G>A	XP_011517441.1:n.39-6758G>A
XM_011519140.1:c.7G>A	XP_011517442.1:p.Ala3Thr
XM_011519141.1:c.7G>A	XP_011517443.1:p.Ala3Thr
XM_011519142.1:c.7G>A	XP_011517444.1:p.Ala3Thr
XM_011519143.1:c.7G>A	XP_011517445.1:p.Ala3Thr
XM_011519144.1:c.7G>A	XP_011517446.1:p.Ala3Thr
XR_929860.1:n.483G>A
XR_929861.1:n.484G>A
XR_929862.1:n.485G>A
XR_929863.1:n.485G>A
XM_011519138.2:c.56+1587G>A	XP_011517440.1:n.56+1587G>A
XM_011519142.3:c.7G>A	XP_011517444.1:p.Ala3Thr
XM_011519143.2:c.7G>A	XP_011517445.1:p.Ala3Thr
XM_011519144.2:c.7G>A	XP_011517446.1:p.Ala3Thr
XM_017015239.1:c.7G>A	XP_016870728.1:p.Ala3Thr
XR_001746405.1:n.485G>A
XR_929860.3:n.484G>A
XR_929861.2:n.485G>A
NM_032888.4:c.7G>A MANE Select	NP_116277.2:p.Ala3Thr