Canonical Allele Identifier: CA516730455
Gene: TAF1 HGNC NCBI

Linked Data

dbSNP Id: rs1262187867
gnomAD v2: X-70618423-C-A
gnomAD v4: X-71398573-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71398573C>A , CM000685.2:g.71398573C>A GRCh38
NC_000023.10:g.70618423C>A , CM000685.1:g.70618423C>A GRCh37
NC_000023.9:g.70535148C>A NCBI36
NG_012771.2:g.37310C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276072.9:c.2908C>A ENSP00000276072.5:p.Arg970=
ENST00000483985.3:c.537C>A
ENST00000683202.1:c.3622C>A ENSP00000507781.1:p.Arg1208=
ENST00000683668.1:c.2908C>A ENSP00000507280.1:p.Arg970=
ENST00000683782.1:c.3622C>A ENSP00000506996.1:p.Arg1208=
ENST00000276072.8:c.216C>A
ENST00000373790.9:c.3559C>A ENSP00000362895.5:p.Arg1187=
ENST00000423759.6:c.3622C>A MANE Select ENSP00000406549.2:p.Arg1208=
ENST00000276072.7:c.3682C>A ENSP00000276072.3:p.Arg1228=
ENST00000373790.8:c.3619C>A ENSP00000362895.4:p.Arg1207=
ENST00000423759.5:c.3682C>A ENSP00000406549.1:p.Arg1228=
ENST00000483985.2:c.351C>A
NM_001286074.1:c.3682C>A NP_001273003.1:p.Arg1228=
NM_004606.4:c.3682C>A NP_004597.2:p.Arg1228=
NM_138923.3:c.3619C>A NP_620278.1:p.Arg1207=
NR_104387.1:n.3758C>A
NR_104388.1:n.3758C>A
NR_104389.1:n.3758C>A
NR_104390.1:n.3758C>A
NR_104391.1:n.3758C>A
NR_104392.1:n.3758C>A
NR_104393.1:n.3758C>A
NR_104394.1:n.3758C>A
NR_104395.1:n.3758C>A
XM_005262295.1:c.3682C>A XP_005262352.1:p.Arg1228=
XM_005262296.1:c.3679C>A XP_005262353.1:p.Arg1227=
XM_005262297.3:c.3619C>A XP_005262354.1:p.Arg1207=
XM_006724682.2:c.3301C>A XP_006724745.1:p.Arg1101=
XM_011531016.1:c.3682C>A XP_011529318.1:p.Arg1228=
XR_938407.1:n.3692C>A
XM_005262297.4:c.3619C>A XP_005262354.1:p.Arg1207=
XM_024452429.1:c.3301C>A XP_024308197.1:p.Arg1101=
XM_024452430.1:c.3682C>A XP_024308198.1:p.Arg1228=
NM_001286074.2:c.3622C>A NP_001273003.2:p.Arg1208=
NM_004606.5:c.3622C>A MANE Select NP_004597.3:p.Arg1208=
NM_138923.4:c.3559C>A NP_620278.2:p.Arg1187=
NR_104387.2:n.3640C>A
NR_104388.2:n.3640C>A
NR_104389.2:n.3640C>A
NR_104390.2:n.3640C>A
NR_104391.2:n.3640C>A
NR_104392.2:n.3640C>A
NR_104393.2:n.3640C>A
NR_104394.2:n.3640C>A
NR_104395.2:n.3640C>A