Canonical Allele Identifier: CA2739273180

Gene: COL9A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70294151G>A , CM000668.2:g.70294151G>A	GRCh38
NC_000006.11:g.71003854G>A , CM000668.1:g.71003854G>A	GRCh37
NC_000006.10:g.71060575G>A	NCBI36
NG_011654.1:g.13933C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001851.6:c.696+16C>T MANE Select	NP_001842.3:n.696+16C>T
ENST00000357250.11:c.696+16C>T MANE Select	ENSP00000349790.6:n.696+16C>T
NM_001377291.1:c.696+16C>T	NP_001364220.1:n.696+16C>T
NM_001851.4:c.696+16C>T	NP_001842.3:n.696+16C>T
NM_001851.5:c.696+16C>T	NP_001842.3:n.696+16C>T
ENST00000357250.10:c.696+16C>T	ENSP00000349790.6:n.696+16C>T
ENST00000370496.3:c.696+16C>T	ENSP00000359527.3:n.696+16C>T
XM_011535429.1:c.696+16C>T	XP_011533731.1:n.696+16C>T
XM_011535429.3:c.696+16C>T	XP_011533731.1:n.696+16C>T
XM_017010246.2:c.147+16C>T	XP_016865735.1:n.147+16C>T