Canonical Allele Identifier: CA400363117

Gene: MTMR4

Linked Data

• gnomAD v4: 17-58506833-C-A
• COSMIC: COSM6425224
• MyVariant Identifiers: chr17:g.56584194C>A (hg19) ; chr17:g.58506833C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58506833C>A , CM000679.2:g.58506833C>A	GRCh38
NC_000017.10:g.56584194C>A , CM000679.1:g.56584194C>A	GRCh37
NC_000017.9:g.53939193C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682306.1:c.943G>T MANE Select	ENSP00000507664.1:p.Ala315Ser
ENST00000323456.9:c.901G>T	ENSP00000325285.5:p.Ala301Ser
ENST00000579925.5:c.901G>T	ENSP00000464067.1:p.Ala301Ser
NM_004687.4:c.901G>T	NP_004678.3:p.Ala301Ser
XM_005257784.2:c.943G>T	XP_005257841.1:p.Ala315Ser
XM_005257785.3:c.913G>T	XP_005257842.1:p.Ala305Ser
XM_005257786.3:c.901G>T	XP_005257843.1:p.Ala301Ser
XM_006722168.2:c.901G>T	XP_006722231.1:p.Ala301Ser
XM_011525460.1:c.913G>T	XP_011523762.1:p.Ala305Ser
XM_005257785.5:c.913G>T	XP_005257842.1:p.Ala305Ser
XM_005257786.5:c.901G>T	XP_005257843.1:p.Ala301Ser
XM_006722168.4:c.901G>T	XP_006722231.1:p.Ala301Ser
XM_011525460.3:c.913G>T	XP_011523762.1:p.Ala305Ser
NM_004687.5:c.901G>T	NP_004678.3:p.Ala301Ser
NM_001378066.1:c.913G>T	NP_001364995.1:p.Ala305Ser
NM_001378067.1:c.943G>T MANE Select	NP_001364996.1:p.Ala315Ser