Canonical Allele Identifier: CA380852035

Gene: MYRF TMEM258

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61774060G>C , CM000673.2:g.61774060G>C	GRCh38
NC_000011.9:g.61541532G>C , CM000673.1:g.61541532G>C	GRCh37
NC_000011.8:g.61298108G>C	NCBI36
NG_047038.1:g.26424G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001127392.3:c.1209G>C (MYRF) MANE Select	NP_001120864.1:p.Gln403His
ENST00000278836.10:c.1209G>C (MYRF) MANE Select	ENSP00000278836.4:p.Gln403His
NM_001127392.2:c.1209G>C (MYRF)	NP_001120864.1:p.Gln403His
NM_013279.3:c.1182G>C (MYRF)	NP_037411.1:p.Gln394His
NM_013279.4:c.1182G>C (MYRF)	NP_037411.1:p.Gln394His
ENST00000265460.9:c.1182G>C (MYRF)	ENSP00000265460.5:p.Gln394His
ENST00000278836.9:c.1209G>C (MYRF)	ENSP00000278836.4:p.Gln403His
ENST00000535042.1:n.567C>G (TMEM258)
ENST00000675319.1:c.574G>C (MYRF)
XM_005274222.1:c.1209G>C (MYRF)	XP_005274279.1:p.Gln403His
XM_005274223.1:c.1209G>C (MYRF)	XP_005274280.1:p.Gln403His
XM_005274224.1:c.1209G>C (MYRF)	XP_005274281.1:p.Gln403His
XM_005274225.1:c.1209G>C (MYRF)	XP_005274282.1:p.Gln403His
XM_005274226.1:c.1209G>C (MYRF)	XP_005274283.1:p.Gln403His
XM_005274227.1:c.1209G>C (MYRF)	XP_005274284.1:p.Gln403His
XM_005274228.1:c.1056G>C (MYRF)	XP_005274285.1:p.Gln352His
XM_011545234.1:c.606G>C (MYRF)	XP_011543536.1:p.Gln202His
XM_011545234.2:c.606G>C (MYRF)	XP_011543536.1:p.Gln202His
XM_024448677.1:c.768G>C (MYRF)	XP_024304445.1:p.Gln256His