Canonical Allele Identifier: CA400363144

Gene: MTMR4

Linked Data

• gnomAD v4: 17-58506837-G-T
• MyVariant Identifiers: chr17:g.56584198G>T (hg19) ; chr17:g.58506837G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58506837G>T , CM000679.2:g.58506837G>T	GRCh38
NC_000017.10:g.56584198G>T , CM000679.1:g.56584198G>T	GRCh37
NC_000017.9:g.53939197G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682306.1:c.939C>A MANE Select	ENSP00000507664.1:p.Ser313Arg
ENST00000323456.9:c.897C>A	ENSP00000325285.5:p.Ser299Arg
ENST00000579925.5:c.897C>A	ENSP00000464067.1:p.Ser299Arg
NM_004687.4:c.897C>A	NP_004678.3:p.Ser299Arg
XM_005257784.2:c.939C>A	XP_005257841.1:p.Ser313Arg
XM_005257785.3:c.909C>A	XP_005257842.1:p.Ser303Arg
XM_005257786.3:c.897C>A	XP_005257843.1:p.Ser299Arg
XM_006722168.2:c.897C>A	XP_006722231.1:p.Ser299Arg
XM_011525460.1:c.909C>A	XP_011523762.1:p.Ser303Arg
XM_005257785.5:c.909C>A	XP_005257842.1:p.Ser303Arg
XM_005257786.5:c.897C>A	XP_005257843.1:p.Ser299Arg
XM_006722168.4:c.897C>A	XP_006722231.1:p.Ser299Arg
XM_011525460.3:c.909C>A	XP_011523762.1:p.Ser303Arg
NM_004687.5:c.897C>A	NP_004678.3:p.Ser299Arg
NM_001378066.1:c.909C>A	NP_001364995.1:p.Ser303Arg
NM_001378067.1:c.939C>A MANE Select	NP_001364996.1:p.Ser313Arg