Canonical Allele Identifier: CA358686141

Gene: MSMO1

Linked Data

• MyVariant Identifiers: chr4:g.166259918T>G (hg19) ; chr4:g.165338766T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.165338766T>G , CM000666.2:g.165338766T>G	GRCh38
NC_000004.11:g.166259918T>G , CM000666.1:g.166259918T>G	GRCh37
NC_000004.10:g.166479368T>G	NCBI36
NG_042288.1:g.16101T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261507.11:c.519T>G MANE Select	ENSP00000261507.6:p.His173Gln
ENST00000261507.10:c.519T>G	ENSP00000261507.6:p.His173Gln
ENST00000393766.6:c.126T>G	ENSP00000377361.2:p.His42Gln
ENST00000504317.1:c.519T>G	ENSP00000423633.1:p.His173Gln
ENST00000507013.5:c.519T>G	ENSP00000425241.1:p.His173Gln
NM_001017369.2:c.126T>G	NP_001017369.1:p.His42Gln
NM_006745.4:c.519T>G	NP_006736.1:p.His173Gln
XM_005263176.1:c.519T>G	XP_005263233.1:p.His173Gln
XM_005263176.2:c.519T>G	XP_005263233.1:p.His173Gln
NM_006745.5:c.519T>G MANE Select	NP_006736.1:p.His173Gln
NM_001017369.3:c.126T>G	NP_001017369.1:p.His42Gln