Canonical Allele Identifier: CA2505992
Community Standard Title: NM_001278293.3(ARL6):c.534A>G (p.Gln178=)
Gene: ARL6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.97791825A>G , CM000665.2:g.97791825A>G GRCh38
NC_000003.11:g.97510669A>G , CM000665.1:g.97510669A>G GRCh37
NC_000003.10:g.98993359A>G NCBI36
NG_008119.1:g.32075A>G
NG_008119.2:g.32075A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001278293.3:c.534A>G MANE Select NP_001265222.1:p.Gln178=
ENST00000463745.6:c.534A>G MANE Select ENSP00000419619.1:p.Gln178=
NM_001278293.1:c.534A>G NP_001265222.1:p.Gln178=
NM_001278293.2:c.534A>G NP_001265222.1:p.Gln178=
NM_001323513.1:c.534A>G NP_001310442.1:p.Gln178=
NM_001323513.2:c.534A>G NP_001310442.1:p.Gln178=
NM_001323514.1:c.479+3706A>G NP_001310443.1:n.479+3706A>G
NM_001323514.2:c.479+3706A>G NP_001310443.1:n.479+3706A>G
NM_032146.4:c.534A>G NP_115522.1:p.Gln178=
NM_032146.5:c.534A>G NP_115522.1:p.Gln178=
NM_177976.2:c.534A>G NP_816931.1:p.Gln178=
NM_177976.3:c.534A>G NP_816931.1:p.Gln178=
NR_103511.1:n.1117A>G
NR_103511.2:n.880A>G
NR_103511.3:n.880A>G
NR_136595.1:n.1674A>G
NR_136595.2:n.1437A>G
NR_136597.1:n.1575A>G
NR_136597.2:n.1338A>G
NR_136598.1:n.1022A>G
NR_136598.2:n.785A>G
NR_136600.1:n.1018A>G
NR_136600.2:n.781A>G
NR_136600.3:n.781A>G
NR_136601.1:n.1018A>G
NR_136601.2:n.781A>G
NR_136601.3:n.781A>G
NR_136602.1:n.963+3706A>G
NR_136602.2:n.726+3706A>G
NR_136602.3:n.726+3706A>G
ENST00000335979.6:c.534A>G ENSP00000337722.2:p.Gln178=
ENST00000394206.5:c.534A>G ENSP00000377756.1:p.Gln178=
ENST00000462412.3:c.534A>G ENSP00000418740.2:p.Gln178=
ENST00000463745.5:c.534A>G ENSP00000419619.1:p.Gln178=
ENST00000476753.1:c.163+3706A>G
ENST00000493990.5:c.534A>G ENSP00000418057.1:p.Gln178=
ENST00000631834.1:c.396A>G ENSP00000488530.1:p.Gln132=
ENST00000631834.2:c.534A>G ENSP00000488530.2:p.Gln178=
XM_006713779.2:c.534A>G XP_006713842.1:p.Gln178=
XM_006713783.2:c.479+3706A>G XP_006713846.1:n.479+3706A>G
XM_017007311.2:c.534A>G XP_016862800.1:p.Gln178=
XM_017007312.2:c.479+3706A>G XP_016862801.1:n.479+3706A>G
XR_001740319.2:n.2958A>G
XR_001740321.2:n.2958A>G
XR_002959599.1:n.3574A>G
XR_924184.1:n.1006A>G
XR_924184.3:n.2958A>G
XR_924185.1:n.1112A>G
XR_924185.3:n.3057A>G
XR_924186.1:n.1159A>G
XR_924186.3:n.3116A>G
XR_924187.1:n.1006A>G
XR_924187.3:n.2958A>G
XR_924188.1:n.1060A>G
XR_924188.3:n.3017A>G
XR_924189.1:n.1006A>G
XR_924189.3:n.2958A>G