Canonical Allele Identifier: CA1716165932
Community Standard Title: NM_015570.4(AUTS2):c.1483C= (p.Arg495=)
Gene: AUTS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.70766128C= , CM000669.2:g.70766128C= GRCh38
NC_000007.13:g.70231114C= , CM000669.1:g.70231114C= GRCh37
NC_000007.12:g.69869050C= NCBI36
NG_034133.1:g.1172210C=

Transcript Alleles

HGVS Amino-acid Change
NM_015570.4:c.1483C= MANE Select NP_056385.1:p.Arg495=
ENST00000342771.10:c.1483C= MANE Select ENSP00000344087.4:p.Arg495=
NM_001127231.2:c.1483C= NP_001120703.1:p.Arg495=
NM_001127231.3:c.1483C= NP_001120703.1:p.Arg495=
NM_015570.3:c.1483C= NP_056385.1:p.Arg495=
ENST00000342771.8:c.1483C= ENSP00000344087.4:p.Arg495=
ENST00000406775.6:c.1483C= ENSP00000385263.2:p.Arg495=
ENST00000443672.1:c.108C=
ENST00000443672.2:c.-183C= ENSP00000393548.2:n.-183C=
ENST00000481994.1:n.90C=
ENST00000611706.4:c.739C= ENSP00000478134.1:p.Arg247=
ENST00000615871.4:c.739C= ENSP00000479325.1:p.Arg247=
ENST00000644359.1:c.109C= ENSP00000494561.1:p.Arg37=
ENST00000644506.1:c.109C= ENSP00000496672.1:p.Arg37=
ENST00000644939.1:c.1480C= ENSP00000496726.1:p.Arg494=
ENST00000647140.1:c.327C=
ENST00000656200.1:c.109C= ENSP00000499508.1:p.Arg37=
XM_005250257.1:c.109C= XP_005250314.1:p.Arg37=
XM_005250257.2:c.109C= XP_005250314.1:p.Arg37=
XM_011516010.1:c.1483C= XP_011514312.1:p.Arg495=
XM_011516010.2:c.1483C= XP_011514312.1:p.Arg495=
XM_011516011.1:c.1480C= XP_011514313.1:p.Arg494=
XM_011516011.2:c.1480C= XP_011514313.1:p.Arg494=
XM_011516012.1:c.1483C= XP_011514314.1:p.Arg495=
XM_011516012.2:c.1483C= XP_011514314.1:p.Arg495=
XM_011516013.1:c.1483C= XP_011514315.1:p.Arg495=
XM_011516013.2:c.1483C= XP_011514315.1:p.Arg495=
XM_011516014.1:c.1483C= XP_011514316.1:p.Arg495=
XM_011516014.2:c.1483C= XP_011514316.1:p.Arg495=
XM_011516015.1:c.1483C= XP_011514317.1:p.Arg495=
XM_011516016.1:c.1192C= XP_011514318.1:p.Arg398=
XM_011516017.1:c.1009C= XP_011514319.1:p.Arg337=
XM_011516017.2:c.1009C= XP_011514319.1:p.Arg337=
XM_011516018.1:c.982C= XP_011514320.1:p.Arg328=
XM_011516018.2:c.982C= XP_011514320.1:p.Arg328=
XM_017011951.2:c.1483C= XP_016867440.1:p.Arg495=