Canonical Allele Identifier: CA379517788

Gene: GTF2H1

Linked Data

• MyVariant Identifiers: chr11:g.18357429C>A (hg19) ; chr11:g.18335882C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18335882C>A , CM000673.2:g.18335882C>A	GRCh38
NC_000011.9:g.18357429C>A , CM000673.1:g.18357429C>A	GRCh37
NC_000011.8:g.18314005C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.283C>A MANE Select	ENSP00000265963.4:p.Leu95Ile
ENST00000265963.8:c.283C>A	ENSP00000265963.4:p.Leu95Ile
ENST00000418116.6:n.482C>A
ENST00000453096.6:c.283C>A	ENSP00000393638.2:p.Leu95Ile
ENST00000525831.5:c.283C>A	ENSP00000431481.1:p.Leu95Ile
ENST00000531757.5:n.553C>A
ENST00000534641.5:c.-1-2227C>A	ENSP00000435375.1:n.-1-2227C>A
ENST00000543932.5:n.696C>A
NM_001142307.1:c.283C>A	NP_001135779.1:p.Leu95Ile
NM_005316.3:c.283C>A	NP_005307.1:p.Leu95Ile
XM_006718208.2:c.283C>A	XP_006718271.1:p.Leu95Ile
XM_006718208.3:c.283C>A	XP_006718271.1:p.Leu95Ile
XM_024448457.1:c.283C>A	XP_024304225.1:p.Leu95Ile
XM_024448458.1:c.283C>A	XP_024304226.1:p.Leu95Ile
NM_005316.4:c.283C>A MANE Select	NP_005307.1:p.Leu95Ile
NM_001142307.2:c.283C>A	NP_001135779.1:p.Leu95Ile