Canonical Allele Identifier: CA1955551740
Gene: GTF2H1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18335841A= , CM000673.2:g.18335841A= GRCh38
NC_000011.9:g.18357388A= , CM000673.1:g.18357388A= GRCh37
NC_000011.8:g.18313964A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265963.9:c.242A= MANE Select ENSP00000265963.4:p.Asn81=
ENST00000265963.8:c.242A= ENSP00000265963.4:p.Asn81=
ENST00000418116.6:n.441A=
ENST00000453096.6:c.242A= ENSP00000393638.2:p.Asn81=
ENST00000525831.5:c.242A= ENSP00000431481.1:p.Asn81=
ENST00000531757.5:n.512A=
ENST00000534641.5:c.-1-2268A= ENSP00000435375.1:n.-1-2268A=
ENST00000543932.5:n.655A=
NM_001142307.1:c.242A= NP_001135779.1:p.Asn81=
NM_005316.3:c.242A= NP_005307.1:p.Asn81=
XM_006718208.2:c.242A= XP_006718271.1:p.Asn81=
XM_006718208.3:c.242A= XP_006718271.1:p.Asn81=
XM_024448457.1:c.242A= XP_024304225.1:p.Asn81=
XM_024448458.1:c.242A= XP_024304226.1:p.Asn81=
NM_005316.4:c.242A= MANE Select NP_005307.1:p.Asn81=
NM_001142307.2:c.242A= NP_001135779.1:p.Asn81=