Canonical Allele Identifier: CA413504324
Community Standard Title: NM_004606.5(TAF1):c.149G>C (p.Gly50Ala)
Gene: TAF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71367527G>C , CM000685.2:g.71367527G>C GRCh38
NC_000023.10:g.70587377G>C , CM000685.1:g.70587377G>C GRCh37
NC_000023.9:g.70504102G>C NCBI36
NG_012771.2:g.6264G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004606.5:c.149G>C MANE Select NP_004597.3:p.Gly50Ala
ENST00000423759.6:c.149G>C MANE Select ENSP00000406549.2:p.Gly50Ala
NM_001286074.1:c.209G>C NP_001273003.1:p.Gly70Ala
NM_001286074.2:c.149G>C NP_001273003.2:p.Gly50Ala
NM_004606.4:c.209G>C NP_004597.2:p.Gly70Ala
NM_138923.3:c.209G>C NP_620278.1:p.Gly70Ala
NM_138923.4:c.149G>C NP_620278.2:p.Gly50Ala
NR_104387.1:n.285G>C
NR_104387.2:n.167G>C
NR_104388.1:n.285G>C
NR_104388.2:n.167G>C
NR_104389.1:n.285G>C
NR_104389.2:n.167G>C
NR_104390.1:n.285G>C
NR_104390.2:n.167G>C
NR_104391.1:n.285G>C
NR_104391.2:n.167G>C
NR_104392.1:n.285G>C
NR_104392.2:n.167G>C
NR_104393.1:n.285G>C
NR_104393.2:n.167G>C
NR_104394.1:n.285G>C
NR_104394.2:n.167G>C
NR_104395.1:n.285G>C
NR_104395.2:n.167G>C
ENST00000276072.7:c.209G>C ENSP00000276072.3:p.Gly70Ala
ENST00000373790.8:c.209G>C ENSP00000362895.4:p.Gly70Ala
ENST00000373790.9:c.149G>C ENSP00000362895.5:p.Gly50Ala
ENST00000423759.5:c.209G>C ENSP00000406549.1:p.Gly70Ala
ENST00000483365.2:n.260G>C
ENST00000683202.1:c.149G>C ENSP00000507781.1:p.Gly50Ala
ENST00000683352.1:n.219G>C
ENST00000683782.1:c.149G>C ENSP00000506996.1:p.Gly50Ala
XM_005262295.1:c.209G>C XP_005262352.1:p.Gly70Ala
XM_005262296.1:c.209G>C XP_005262353.1:p.Gly70Ala
XM_005262297.3:c.209G>C XP_005262354.1:p.Gly70Ala
XM_005262297.4:c.209G>C XP_005262354.1:p.Gly70Ala
XM_005262300.1:c.209G>C XP_005262357.1:p.Gly70Ala
XM_005262300.2:c.209G>C XP_005262357.1:p.Gly70Ala
XM_006724682.2:c.-160G>C XP_006724745.1:n.-160G>C
XM_011531016.1:c.209G>C XP_011529318.1:p.Gly70Ala
XM_024452429.1:c.-160G>C XP_024308197.1:n.-160G>C
XM_024452430.1:c.209G>C XP_024308198.1:p.Gly70Ala
XR_938407.1:n.219G>C