Canonical Allele Identifier: CA501060446
Gene: MTMR4 HGNC NCBI

Linked Data

dbSNP Id: rs1975789521
MyVariant Identifiers: chr17:g.56584180C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58506819C>T , CM000679.2:g.58506819C>T GRCh38
NC_000017.10:g.56584180C>T , CM000679.1:g.56584180C>T GRCh37
NC_000017.9:g.53939179C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682306.1:c.957G>A MANE Select ENSP00000507664.1:p.Lys319=
ENST00000323456.9:c.915G>A ENSP00000325285.5:p.Lys305=
ENST00000579925.5:c.915G>A ENSP00000464067.1:p.Lys305=
NM_004687.4:c.915G>A NP_004678.3:p.Lys305=
XM_005257784.2:c.957G>A XP_005257841.1:p.Lys319=
XM_005257785.3:c.927G>A XP_005257842.1:p.Lys309=
XM_005257786.3:c.915G>A XP_005257843.1:p.Lys305=
XM_006722168.2:c.915G>A XP_006722231.1:p.Lys305=
XM_011525460.1:c.927G>A XP_011523762.1:p.Lys309=
XM_005257785.5:c.927G>A XP_005257842.1:p.Lys309=
XM_005257786.5:c.915G>A XP_005257843.1:p.Lys305=
XM_006722168.4:c.915G>A XP_006722231.1:p.Lys305=
XM_011525460.3:c.927G>A XP_011523762.1:p.Lys309=
NM_004687.5:c.915G>A NP_004678.3:p.Lys305=
NM_001378066.1:c.927G>A NP_001364995.1:p.Lys309=
NM_001378067.1:c.957G>A MANE Select NP_001364996.1:p.Lys319=