Canonical Allele Identifier: CA8059291

Gene: IRX5

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.54933221C>G , CM000678.2:g.54933221C>G	GRCh38
NC_000016.9:g.54967133C>G , CM000678.1:g.54967133C>G	GRCh37
NC_000016.8:g.53524634C>G	NCBI36
NG_032773.1:g.7023C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005853.6:c.800C>G MANE Select	NP_005844.4:p.Pro267Arg
ENST00000394636.9:c.800C>G MANE Select	ENSP00000378132.4:p.Pro267Arg
NM_001252197.1:c.797C>G	NP_001239126.1:p.Pro266Arg
NM_005853.5:c.800C>G	NP_005844.4:p.Pro267Arg
ENST00000320990.9:c.797C>G	ENSP00000316250.5:p.Pro266Arg
ENST00000394636.8:c.800C>G	ENSP00000378132.4:p.Pro267Arg
ENST00000558597.1:c.602C>G	ENSP00000453725.1:p.Pro201Arg
ENST00000560154.5:c.406-266C>G	ENSP00000453660.1:n.406-266C>G
ENST00000620085.1:c.418-276C>G	ENSP00000483446.1:n.418-276C>G
XM_011522809.1:c.590C>G	XP_011521111.1:p.Pro197Arg