Canonical Allele Identifier: CA400362433

Gene: MTMR4

Linked Data

• gnomAD v4: 17-58506743-C-G
• MyVariant Identifiers: chr17:g.56584104C>G (hg19) ; chr17:g.58506743C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58506743C>G , CM000679.2:g.58506743C>G	GRCh38
NC_000017.10:g.56584104C>G , CM000679.1:g.56584104C>G	GRCh37
NC_000017.9:g.53939103C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682306.1:c.1033G>C MANE Select	ENSP00000507664.1:p.Glu345Gln
ENST00000323456.9:c.991G>C	ENSP00000325285.5:p.Glu331Gln
ENST00000579925.5:c.991G>C	ENSP00000464067.1:p.Glu331Gln
NM_004687.4:c.991G>C	NP_004678.3:p.Glu331Gln
XM_005257784.2:c.1033G>C	XP_005257841.1:p.Glu345Gln
XM_005257785.3:c.1003G>C	XP_005257842.1:p.Glu335Gln
XM_005257786.3:c.991G>C	XP_005257843.1:p.Glu331Gln
XM_006722168.2:c.991G>C	XP_006722231.1:p.Glu331Gln
XM_011525460.1:c.1003G>C	XP_011523762.1:p.Glu335Gln
XM_005257785.5:c.1003G>C	XP_005257842.1:p.Glu335Gln
XM_005257786.5:c.991G>C	XP_005257843.1:p.Glu331Gln
XM_006722168.4:c.991G>C	XP_006722231.1:p.Glu331Gln
XM_011525460.3:c.1003G>C	XP_011523762.1:p.Glu335Gln
NM_004687.5:c.991G>C	NP_004678.3:p.Glu331Gln
NM_001378066.1:c.1003G>C	NP_001364995.1:p.Glu335Gln
NM_001378067.1:c.1033G>C MANE Select	NP_001364996.1:p.Glu345Gln