Canonical Allele Identifier: CA400363091

Gene: MTMR4

Linked Data

• dbSNP Id: rs1006695348
• gnomAD v2: 17-56584191-C-A
• gnomAD v4: 17-58506830-C-A
• MyVariant Identifiers: chr17:g.56584191C>A (hg19) ; chr17:g.58506830C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58506830C>A , CM000679.2:g.58506830C>A	GRCh38
NC_000017.10:g.56584191C>A , CM000679.1:g.56584191C>A	GRCh37
NC_000017.9:g.53939190C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682306.1:c.946G>T MANE Select	ENSP00000507664.1:p.Ala316Ser
ENST00000323456.9:c.904G>T	ENSP00000325285.5:p.Ala302Ser
ENST00000579925.5:c.904G>T	ENSP00000464067.1:p.Ala302Ser
NM_004687.4:c.904G>T	NP_004678.3:p.Ala302Ser
XM_005257784.2:c.946G>T	XP_005257841.1:p.Ala316Ser
XM_005257785.3:c.916G>T	XP_005257842.1:p.Ala306Ser
XM_005257786.3:c.904G>T	XP_005257843.1:p.Ala302Ser
XM_006722168.2:c.904G>T	XP_006722231.1:p.Ala302Ser
XM_011525460.1:c.916G>T	XP_011523762.1:p.Ala306Ser
XM_005257785.5:c.916G>T	XP_005257842.1:p.Ala306Ser
XM_005257786.5:c.904G>T	XP_005257843.1:p.Ala302Ser
XM_006722168.4:c.904G>T	XP_006722231.1:p.Ala302Ser
XM_011525460.3:c.916G>T	XP_011523762.1:p.Ala306Ser
NM_004687.5:c.904G>T	NP_004678.3:p.Ala302Ser
NM_001378066.1:c.916G>T	NP_001364995.1:p.Ala306Ser
NM_001378067.1:c.946G>T MANE Select	NP_001364996.1:p.Ala316Ser