Canonical Allele Identifier: CA379518047

Gene: GTF2H1

Linked Data

• MyVariant Identifiers: chr11:g.18357477C>G (hg19) ; chr11:g.18335930C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18335930C>G , CM000673.2:g.18335930C>G	GRCh38
NC_000011.9:g.18357477C>G , CM000673.1:g.18357477C>G	GRCh37
NC_000011.8:g.18314053C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.331C>G MANE Select	ENSP00000265963.4:p.Leu111Val
ENST00000265963.8:c.331C>G	ENSP00000265963.4:p.Leu111Val
ENST00000418116.6:n.530C>G
ENST00000453096.6:c.331C>G	ENSP00000393638.2:p.Leu111Val
ENST00000534641.5:c.-1-2179C>G	ENSP00000435375.1:n.-1-2179C>G
ENST00000543932.5:n.744C>G
NM_001142307.1:c.331C>G	NP_001135779.1:p.Leu111Val
NM_005316.3:c.331C>G	NP_005307.1:p.Leu111Val
XM_006718208.2:c.331C>G	XP_006718271.1:p.Leu111Val
XM_006718208.3:c.331C>G	XP_006718271.1:p.Leu111Val
XM_024448457.1:c.331C>G	XP_024304225.1:p.Leu111Val
XM_024448458.1:c.331C>G	XP_024304226.1:p.Leu111Val
NM_005316.4:c.331C>G MANE Select	NP_005307.1:p.Leu111Val
NM_001142307.2:c.331C>G	NP_001135779.1:p.Leu111Val