Canonical Allele Identifier: CA501060390
Gene: MTMR4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.56584138G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58506777G>A , CM000679.2:g.58506777G>A GRCh38
NC_000017.10:g.56584138G>A , CM000679.1:g.56584138G>A GRCh37
NC_000017.9:g.53939137G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682306.1:c.999C>T MANE Select ENSP00000507664.1:p.Ala333=
ENST00000323456.9:c.957C>T ENSP00000325285.5:p.Ala319=
ENST00000579925.5:c.957C>T ENSP00000464067.1:p.Ala319=
NM_004687.4:c.957C>T NP_004678.3:p.Ala319=
XM_005257784.2:c.999C>T XP_005257841.1:p.Ala333=
XM_005257785.3:c.969C>T XP_005257842.1:p.Ala323=
XM_005257786.3:c.957C>T XP_005257843.1:p.Ala319=
XM_006722168.2:c.957C>T XP_006722231.1:p.Ala319=
XM_011525460.1:c.969C>T XP_011523762.1:p.Ala323=
XM_005257785.5:c.969C>T XP_005257842.1:p.Ala323=
XM_005257786.5:c.957C>T XP_005257843.1:p.Ala319=
XM_006722168.4:c.957C>T XP_006722231.1:p.Ala319=
XM_011525460.3:c.969C>T XP_011523762.1:p.Ala323=
NM_004687.5:c.957C>T NP_004678.3:p.Ala319=
NM_001378066.1:c.969C>T NP_001364995.1:p.Ala323=
NM_001378067.1:c.999C>T MANE Select NP_001364996.1:p.Ala333=