Canonical Allele Identifier: CA023275

Gene: IRX5

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.54932696G>C , CM000678.2:g.54932696G>C	GRCh38
NC_000016.9:g.54966608G>C , CM000678.1:g.54966608G>C	GRCh37
NC_000016.8:g.53524109G>C	NCBI36
NG_032773.1:g.6498G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005853.6:c.448G>C MANE Select	NP_005844.4:p.Ala150Pro
ENST00000394636.9:c.448G>C MANE Select	ENSP00000378132.4:p.Ala150Pro
NM_001252197.1:c.448G>C	NP_001239126.1:p.Ala150Pro
NM_005853.5:c.448G>C	NP_005844.4:p.Ala150Pro
ENST00000320990.9:c.448G>C	ENSP00000316250.5:p.Ala150Pro
ENST00000394636.8:c.448G>C	ENSP00000378132.4:p.Ala150Pro
ENST00000558597.1:c.250G>C	ENSP00000453725.1:p.Ala84Pro
ENST00000560154.5:c.405+487G>C	ENSP00000453660.1:n.405+487G>C
ENST00000620085.1:c.417+187G>C	ENSP00000483446.1:n.417+187G>C
XM_011522809.1:c.238G>C	XP_011521111.1:p.Ala80Pro