Canonical Allele Identifier: CA3882766

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70294237C>T , CM000668.2:g.70294237C>T	GRCh38
NC_000006.11:g.71003940C>T , CM000668.1:g.71003940C>T	GRCh37
NC_000006.10:g.71060661C>T	NCBI36
NG_011654.1:g.13847G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.626G>A MANE Select	NP_001842.3:p.Arg209Lys
ENST00000357250.11:c.626G>A MANE Select	ENSP00000349790.6:p.Arg209Lys
NM_001377291.1:c.626G>A	NP_001364220.1:p.Arg209Lys
NM_001851.4:c.626G>A	NP_001842.3:p.Arg209Lys
NM_001851.5:c.626G>A	NP_001842.3:p.Arg209Lys
ENST00000357250.10:c.626G>A	ENSP00000349790.6:p.Arg209Lys
ENST00000370496.3:c.626G>A	ENSP00000359527.3:p.Arg209Lys
XM_011535429.1:c.626G>A	XP_011533731.1:p.Arg209Lys
XM_011535429.3:c.626G>A	XP_011533731.1:p.Arg209Lys
XM_017010246.2:c.77G>A	XP_016865735.1:p.Arg26Lys