Canonical Allele Identifier: CA10447065
Gene: TAF1 HGNC NCBI

Linked Data

dbSNP Id: rs769057282
gnomAD v2: X-70618488-A-G
gnomAD v4: X-71398638-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71398638A>G , CM000685.2:g.71398638A>G GRCh38
NC_000023.10:g.70618488A>G , CM000685.1:g.70618488A>G GRCh37
NC_000023.9:g.70535213A>G NCBI36
NG_012771.2:g.37375A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000276072.9:c.2973A>G ENSP00000276072.5:p.Gln991=
ENST00000483985.3:c.602A>G
ENST00000683202.1:c.3687A>G ENSP00000507781.1:p.Gln1229=
ENST00000683668.1:c.2973A>G ENSP00000507280.1:p.Gln991=
ENST00000683782.1:c.3687A>G ENSP00000506996.1:p.Gln1229=
ENST00000276072.8:c.281A>G
ENST00000373790.9:c.3624A>G ENSP00000362895.5:p.Gln1208=
ENST00000423759.6:c.3687A>G MANE Select ENSP00000406549.2:p.Gln1229=
ENST00000276072.7:c.3747A>G ENSP00000276072.3:p.Gln1249=
ENST00000373790.8:c.3684A>G ENSP00000362895.4:p.Gln1228=
ENST00000423759.5:c.3747A>G ENSP00000406549.1:p.Gln1249=
ENST00000483985.2:c.416A>G
NM_001286074.1:c.3747A>G NP_001273003.1:p.Gln1249=
NM_004606.4:c.3747A>G NP_004597.2:p.Gln1249=
NM_138923.3:c.3684A>G NP_620278.1:p.Gln1228=
NR_104387.1:n.3823A>G
NR_104388.1:n.3823A>G
NR_104389.1:n.3823A>G
NR_104390.1:n.3823A>G
NR_104391.1:n.3823A>G
NR_104392.1:n.3823A>G
NR_104393.1:n.3823A>G
NR_104394.1:n.3823A>G
NR_104395.1:n.3823A>G
XM_005262295.1:c.3747A>G XP_005262352.1:p.Gln1249=
XM_005262296.1:c.3744A>G XP_005262353.1:p.Gln1248=
XM_005262297.3:c.3684A>G XP_005262354.1:p.Gln1228=
XM_006724682.2:c.3366A>G XP_006724745.1:p.Gln1122=
XM_011531016.1:c.3747A>G XP_011529318.1:p.Gln1249=
XR_938407.1:n.3757A>G
XM_005262297.4:c.3684A>G XP_005262354.1:p.Gln1228=
XM_024452429.1:c.3366A>G XP_024308197.1:p.Gln1122=
XM_024452430.1:c.3747A>G XP_024308198.1:p.Gln1249=
NM_001286074.2:c.3687A>G NP_001273003.2:p.Gln1229=
NM_004606.5:c.3687A>G MANE Select NP_004597.3:p.Gln1229=
NM_138923.4:c.3624A>G NP_620278.2:p.Gln1208=
NR_104387.2:n.3705A>G
NR_104388.2:n.3705A>G
NR_104389.2:n.3705A>G
NR_104390.2:n.3705A>G
NR_104391.2:n.3705A>G
NR_104392.2:n.3705A>G
NR_104393.2:n.3705A>G
NR_104394.2:n.3705A>G
NR_104395.2:n.3705A>G