Canonical Allele Identifier: CA379517553

Gene: GTF2H1

Linked Data

• dbSNP Id: rs1228959382
• gnomAD v2: 11-18357363-G-A
• gnomAD v4: 11-18335816-G-A
• MyVariant Identifiers: chr11:g.18357363G>A (hg19) ; chr11:g.18335816G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18335816G>A , CM000673.2:g.18335816G>A	GRCh38
NC_000011.9:g.18357363G>A , CM000673.1:g.18357363G>A	GRCh37
NC_000011.8:g.18313939G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265963.9:c.217G>A MANE Select	ENSP00000265963.4:p.Asp73Asn
ENST00000265963.8:c.217G>A	ENSP00000265963.4:p.Asp73Asn
ENST00000418116.6:n.416G>A
ENST00000453096.6:c.217G>A	ENSP00000393638.2:p.Asp73Asn
ENST00000525831.5:c.217G>A	ENSP00000431481.1:p.Asp73Asn
ENST00000531757.5:n.487G>A
ENST00000534641.5:c.-1-2293G>A	ENSP00000435375.1:n.-1-2293G>A
ENST00000543932.5:n.630G>A
NM_001142307.1:c.217G>A	NP_001135779.1:p.Asp73Asn
NM_005316.3:c.217G>A	NP_005307.1:p.Asp73Asn
XM_006718208.2:c.217G>A	XP_006718271.1:p.Asp73Asn
XM_006718208.3:c.217G>A	XP_006718271.1:p.Asp73Asn
XM_024448457.1:c.217G>A	XP_024304225.1:p.Asp73Asn
XM_024448458.1:c.217G>A	XP_024304226.1:p.Asp73Asn
NM_005316.4:c.217G>A MANE Select	NP_005307.1:p.Asp73Asn
NM_001142307.2:c.217G>A	NP_001135779.1:p.Asp73Asn