Canonical Allele Identifier: CA413514147
Gene: TAF1 HGNC NCBI

Linked Data

gnomAD v4: X-71382827-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71382827C>A , CM000685.2:g.71382827C>A GRCh38
NC_000023.10:g.70602677C>A , CM000685.1:g.70602677C>A GRCh37
NC_000023.9:g.70519402C>A NCBI36
NG_012771.2:g.21564C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276072.9:c.1018C>A ENSP00000276072.5:p.Gln340Lys
ENST00000683202.1:c.1732C>A ENSP00000507781.1:p.Gln578Lys
ENST00000683668.1:c.1018C>A ENSP00000507280.1:p.Gln340Lys
ENST00000683715.1:c.1313C>A
ENST00000683782.1:c.1732C>A ENSP00000506996.1:p.Gln578Lys
ENST00000373790.9:c.1669C>A ENSP00000362895.5:p.Gln557Lys
ENST00000423759.6:c.1732C>A MANE Select ENSP00000406549.2:p.Gln578Lys
ENST00000276072.7:c.1792C>A ENSP00000276072.3:p.Gln598Lys
ENST00000373790.8:c.1729C>A ENSP00000362895.4:p.Gln577Lys
ENST00000423759.5:c.1792C>A ENSP00000406549.1:p.Gln598Lys
NM_001286074.1:c.1792C>A NP_001273003.1:p.Gln598Lys
NM_004606.4:c.1792C>A NP_004597.2:p.Gln598Lys
NM_138923.3:c.1729C>A NP_620278.1:p.Gln577Lys
NR_104387.1:n.1868C>A
NR_104388.1:n.1868C>A
NR_104389.1:n.1868C>A
NR_104390.1:n.1868C>A
NR_104391.1:n.1868C>A
NR_104392.1:n.1868C>A
NR_104393.1:n.1868C>A
NR_104394.1:n.1868C>A
NR_104395.1:n.1868C>A
XM_005262295.1:c.1792C>A XP_005262352.1:p.Gln598Lys
XM_005262296.1:c.1792C>A XP_005262353.1:p.Gln598Lys
XM_005262297.3:c.1729C>A XP_005262354.1:p.Gln577Lys
XM_005262300.1:c.1792C>A XP_005262357.1:p.Gln598Lys
XM_006724682.2:c.1411C>A XP_006724745.1:p.Gln471Lys
XM_011531016.1:c.1792C>A XP_011529318.1:p.Gln598Lys
XR_938407.1:n.1802C>A
XM_005262297.4:c.1729C>A XP_005262354.1:p.Gln577Lys
XM_005262300.2:c.1792C>A XP_005262357.1:p.Gln598Lys
XM_024452429.1:c.1411C>A XP_024308197.1:p.Gln471Lys
XM_024452430.1:c.1792C>A XP_024308198.1:p.Gln598Lys
NM_001286074.2:c.1732C>A NP_001273003.2:p.Gln578Lys
NM_004606.5:c.1732C>A MANE Select NP_004597.3:p.Gln578Lys
NM_138923.4:c.1669C>A NP_620278.2:p.Gln557Lys
NR_104387.2:n.1750C>A
NR_104388.2:n.1750C>A
NR_104389.2:n.1750C>A
NR_104390.2:n.1750C>A
NR_104391.2:n.1750C>A
NR_104392.2:n.1750C>A
NR_104393.2:n.1750C>A
NR_104394.2:n.1750C>A
NR_104395.2:n.1750C>A