Canonical Allele Identifier: CA400363152

Gene: MTMR4

Linked Data

• dbSNP Id: rs1975789834
• gnomAD v4: 17-58506838-C-T
• MyVariant Identifiers: chr17:g.56584199C>T (hg19) ; chr17:g.58506838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58506838C>T , CM000679.2:g.58506838C>T	GRCh38
NC_000017.10:g.56584199C>T , CM000679.1:g.56584199C>T	GRCh37
NC_000017.9:g.53939198C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682306.1:c.938G>A MANE Select	ENSP00000507664.1:p.Ser313Asn
ENST00000323456.9:c.896G>A	ENSP00000325285.5:p.Ser299Asn
ENST00000579925.5:c.896G>A	ENSP00000464067.1:p.Ser299Asn
NM_004687.4:c.896G>A	NP_004678.3:p.Ser299Asn
XM_005257784.2:c.938G>A	XP_005257841.1:p.Ser313Asn
XM_005257785.3:c.908G>A	XP_005257842.1:p.Ser303Asn
XM_005257786.3:c.896G>A	XP_005257843.1:p.Ser299Asn
XM_006722168.2:c.896G>A	XP_006722231.1:p.Ser299Asn
XM_011525460.1:c.908G>A	XP_011523762.1:p.Ser303Asn
XM_005257785.5:c.908G>A	XP_005257842.1:p.Ser303Asn
XM_005257786.5:c.896G>A	XP_005257843.1:p.Ser299Asn
XM_006722168.4:c.896G>A	XP_006722231.1:p.Ser299Asn
XM_011525460.3:c.908G>A	XP_011523762.1:p.Ser303Asn
NM_004687.5:c.896G>A	NP_004678.3:p.Ser299Asn
NM_001378066.1:c.908G>A	NP_001364995.1:p.Ser303Asn
NM_001378067.1:c.938G>A MANE Select	NP_001364996.1:p.Ser313Asn