Canonical Allele Identifier: CA393251488

Gene: MESD

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80979248G>A , CM000677.2:g.80979248G>A	GRCh38
NC_000015.9:g.81271589G>A , CM000677.1:g.81271589G>A	GRCh37
NC_000015.8:g.79058644G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015154.3:c.676C>T MANE Select	NP_055969.1:p.Arg226Ter
ENST00000261758.6:c.676C>T MANE Select	ENSP00000261758.4:p.Arg226Ter
NM_015154.2:c.676C>T	NP_055969.1:p.Arg226Ter
NR_126327.1:n.763C>T
NR_126327.2:n.704C>T
NR_126328.1:n.300+10331C>T
NR_126328.2:n.241+10331C>T
ENST00000261758.5:c.676C>T	ENSP00000261758.4:p.Arg226Ter
ENST00000422879.3:c.213+10331C>T	ENSP00000403839.3:n.213+10331C>T
ENST00000559537.1:c.213+10331C>T	ENSP00000453220.1:n.213+10331C>T
ENST00000561312.5:c.676C>T	ENSP00000453430.1:p.Arg226Ter
ENST00000619987.4:c.676C>T	ENSP00000482455.1:p.Arg226Ter