Canonical Allele Identifier: CA450719391

Gene: COL9A1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.70281033G>T , CM000668.2:g.70281033G>T	GRCh38
NC_000006.11:g.70990736G>T , CM000668.1:g.70990736G>T	GRCh37
NC_000006.10:g.71047457G>T	NCBI36
NG_011654.1:g.27051C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683980.2:c.154C>A	ENSP00000506990.1:p.Arg52=
ENST00000683758.1:c.154C>A	ENSP00000508147.1:p.Arg52=
ENST00000683980.1:c.154C>A	ENSP00000506990.1:p.Arg52=
ENST00000684176.1:n.225C>A
ENST00000320755.12:c.154C>A	ENSP00000315252.7:p.Arg52=
ENST00000357250.11:c.883C>A MANE Select	ENSP00000349790.6:p.Arg295=
ENST00000644493.1:c.154C>A	ENSP00000495638.1:p.Arg52=
ENST00000320755.11:c.154C>A	ENSP00000315252.7:p.Arg52=
ENST00000357250.10:c.883C>A	ENSP00000349790.6:p.Arg295=
ENST00000370496.3:c.883C>A	ENSP00000359527.3:p.Arg295=
NM_001851.4:c.883C>A	NP_001842.3:p.Arg295=
NM_078485.3:c.154C>A	NP_511040.2:p.Arg52=
XM_011535429.1:c.883C>A	XP_011533731.1:p.Arg295=
XM_011535430.1:c.154C>A	XP_011533732.1:p.Arg52=
XM_011535429.3:c.883C>A	XP_011533731.1:p.Arg295=
XM_011535430.3:c.154C>A	XP_011533732.1:p.Arg52=
XM_017010246.2:c.334C>A	XP_016865735.1:p.Arg112=
NM_001377289.1:c.154C>A	NP_001364218.1:p.Arg52=
NM_001377290.1:c.154C>A	NP_001364219.1:p.Arg52=
NM_001377291.1:c.883C>A	NP_001364220.1:p.Arg295=
NM_001851.5:c.883C>A	NP_001842.3:p.Arg295=
NM_078485.4:c.154C>A	NP_511040.2:p.Arg52=
NR_165185.1:n.299C>A
NM_001851.6:c.883C>A MANE Select	NP_001842.3:p.Arg295=