Canonical Allele Identifier: CA5201083

Gene: COL27A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114167795C>A , CM000671.2:g.114167795C>A	GRCh38
NC_000009.11:g.116930075C>A , CM000671.1:g.116930075C>A	GRCh37
NC_000009.10:g.115969896C>A	NCBI36
NG_034260.1:g.17251C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356083.8:c.240C>A MANE Select	ENSP00000348385.3:p.Ala80=
ENST00000356083.7:c.240C>A	ENSP00000348385.3:p.Ala80=
ENST00000451716.5:c.81C>A	ENSP00000391328.1:p.Ala27=
NM_032888.3:c.240C>A	NP_116277.2:p.Ala80=
XM_006717308.2:c.240C>A	XP_006717371.1:p.Ala80=
XM_011519138.1:c.234C>A	XP_011517440.1:p.Ala78=
XM_011519139.1:c.216C>A	XP_011517441.1:p.Ala72=
XM_011519140.1:c.240C>A	XP_011517442.1:p.Ala80=
XM_011519141.1:c.240C>A	XP_011517443.1:p.Ala80=
XM_011519142.1:c.240C>A	XP_011517444.1:p.Ala80=
XM_011519143.1:c.240C>A	XP_011517445.1:p.Ala80=
XM_011519144.1:c.240C>A	XP_011517446.1:p.Ala80=
XR_929860.1:n.716C>A
XR_929861.1:n.717C>A
XR_929862.1:n.718C>A
XR_929863.1:n.718C>A
XM_011519138.2:c.234C>A	XP_011517440.1:p.Ala78=
XM_011519142.3:c.240C>A	XP_011517444.1:p.Ala80=
XM_011519143.2:c.240C>A	XP_011517445.1:p.Ala80=
XM_011519144.2:c.240C>A	XP_011517446.1:p.Ala80=
XM_017015239.1:c.240C>A	XP_016870728.1:p.Ala80=
XR_001746405.1:n.718C>A
XR_929860.3:n.717C>A
XR_929861.2:n.718C>A
NM_032888.4:c.240C>A MANE Select	NP_116277.2:p.Ala80=