Canonical Allele Identifier: CA379517797

Gene: GTF2H1

Linked Data

• MyVariant Identifiers: chr11:g.18357432C>T (hg19) ; chr11:g.18335885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18335885C>T , CM000673.2:g.18335885C>T	GRCh38
NC_000011.9:g.18357432C>T , CM000673.1:g.18357432C>T	GRCh37
NC_000011.8:g.18314008C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.286C>T MANE Select	ENSP00000265963.4:p.Leu96Phe
ENST00000265963.8:c.286C>T	ENSP00000265963.4:p.Leu96Phe
ENST00000418116.6:n.485C>T
ENST00000453096.6:c.286C>T	ENSP00000393638.2:p.Leu96Phe
ENST00000531757.5:n.556C>T
ENST00000534641.5:c.-1-2224C>T	ENSP00000435375.1:n.-1-2224C>T
ENST00000543932.5:n.699C>T
NM_001142307.1:c.286C>T	NP_001135779.1:p.Leu96Phe
NM_005316.3:c.286C>T	NP_005307.1:p.Leu96Phe
XM_006718208.2:c.286C>T	XP_006718271.1:p.Leu96Phe
XM_006718208.3:c.286C>T	XP_006718271.1:p.Leu96Phe
XM_024448457.1:c.286C>T	XP_024304225.1:p.Leu96Phe
XM_024448458.1:c.286C>T	XP_024304226.1:p.Leu96Phe
NM_005316.4:c.286C>T MANE Select	NP_005307.1:p.Leu96Phe
NM_001142307.2:c.286C>T	NP_001135779.1:p.Leu96Phe