Canonical Allele Identifier: CA5910673
Gene: GTF2H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2471402
ClinVar RCV Id: RCV004261897
dbSNP Id: rs757607313

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18335841A>G , CM000673.2:g.18335841A>G GRCh38
NC_000011.9:g.18357388A>G , CM000673.1:g.18357388A>G GRCh37
NC_000011.8:g.18313964A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265963.9:c.242A>G MANE Select ENSP00000265963.4:p.Asn81Ser
ENST00000265963.8:c.242A>G ENSP00000265963.4:p.Asn81Ser
ENST00000418116.6:n.441A>G
ENST00000453096.6:c.242A>G ENSP00000393638.2:p.Asn81Ser
ENST00000525831.5:c.242A>G ENSP00000431481.1:p.Asn81Ser
ENST00000531757.5:n.512A>G
ENST00000534641.5:c.-1-2268A>G ENSP00000435375.1:n.-1-2268A>G
ENST00000543932.5:n.655A>G
NM_001142307.1:c.242A>G NP_001135779.1:p.Asn81Ser
NM_005316.3:c.242A>G NP_005307.1:p.Asn81Ser
XM_006718208.2:c.242A>G XP_006718271.1:p.Asn81Ser
XM_006718208.3:c.242A>G XP_006718271.1:p.Asn81Ser
XM_024448457.1:c.242A>G XP_024304225.1:p.Asn81Ser
XM_024448458.1:c.242A>G XP_024304226.1:p.Asn81Ser
NM_005316.4:c.242A>G MANE Select NP_005307.1:p.Asn81Ser
NM_001142307.2:c.242A>G NP_001135779.1:p.Asn81Ser