Canonical Allele Identifier: CA2539702002

Gene: GTF2H1

Linked Data

• gnomAD v4: 11-18335703-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18335703A>G , CM000673.2:g.18335703A>G	GRCh38
NC_000011.9:g.18357250A>G , CM000673.1:g.18357250A>G	GRCh37
NC_000011.8:g.18313826A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.155-51A>G MANE Select	ENSP00000265963.4:n.155-51A>G
ENST00000265963.8:c.155-51A>G	ENSP00000265963.4:n.155-51A>G
ENST00000418116.6:n.354-51A>G
ENST00000453096.6:c.155-51A>G	ENSP00000393638.2:n.155-51A>G
ENST00000525831.5:c.155-51A>G	ENSP00000431481.1:n.155-51A>G
ENST00000531757.5:n.425-51A>G
ENST00000534641.5:c.-1-2406A>G	ENSP00000435375.1:n.-1-2406A>G
ENST00000543932.5:n.568-51A>G
NM_001142307.1:c.155-51A>G	NP_001135779.1:n.155-51A>G
NM_005316.3:c.155-51A>G	NP_005307.1:n.155-51A>G
XM_006718208.2:c.155-51A>G	XP_006718271.1:n.155-51A>G
XM_006718208.3:c.155-51A>G	XP_006718271.1:n.155-51A>G
XM_024448457.1:c.155-51A>G	XP_024304225.1:n.155-51A>G
XM_024448458.1:c.155-51A>G	XP_024304226.1:n.155-51A>G
NM_005316.4:c.155-51A>G MANE Select	NP_005307.1:n.155-51A>G
NM_001142307.2:c.155-51A>G	NP_001135779.1:n.155-51A>G