Canonical Allele Identifier: CA3130036

Gene: MSMO1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.165341712G>A , CM000666.2:g.165341712G>A	GRCh38
NC_000004.11:g.166262864G>A , CM000666.1:g.166262864G>A	GRCh37
NC_000004.10:g.166482314G>A	NCBI36
NG_042288.1:g.19047G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006745.5:c.687-39G>A MANE Select	NP_006736.1:n.687-39G>A
ENST00000261507.11:c.687-39G>A MANE Select	ENSP00000261507.6:n.687-39G>A
NM_001017369.2:c.294-39G>A	NP_001017369.1:n.294-39G>A
NM_001017369.3:c.294-39G>A	NP_001017369.1:n.294-39G>A
NM_006745.4:c.687-39G>A	NP_006736.1:n.687-39G>A
ENST00000261507.10:c.687-39G>A	ENSP00000261507.6:n.687-39G>A
ENST00000393766.6:c.294-39G>A	ENSP00000377361.2:n.294-39G>A
XM_005263176.1:c.687-39G>A	XP_005263233.1:n.687-39G>A
XM_005263176.2:c.687-39G>A	XP_005263233.1:n.687-39G>A