Canonical Allele Identifier: CA379126170

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187902T>C (hg19) ; chr11:g.2166672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166672T>C , CM000673.2:g.2166672T>C	GRCh38
NC_000011.9:g.2187902T>C , CM000673.1:g.2187902T>C	GRCh37
NC_000011.8:g.2144478T>C	NCBI36
NG_008128.1:g.10134A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.938A>G MANE Select	ENSP00000325951.4:p.Tyr313Cys
ENST00000324155.8:c.*627A>G	ENSP00000325831.3:n.*627A>G
ENST00000333684.9:c.696-123A>G	ENSP00000328814.6:n.696-123A>G
ENST00000352909.7:c.938A>G	ENSP00000325951.3:p.Tyr313Cys
ENST00000381168.7:c.*658A>G	ENSP00000370560.3:n.*658A>G
ENST00000381175.5:c.1019A>G	ENSP00000370567.1:p.Tyr340Cys
ENST00000381178.5:c.1031A>G	ENSP00000370571.1:p.Tyr344Cys
ENST00000412076.1:c.136-123A>G
ENST00000416223.5:c.232A>G
ENST00000461172.1:n.103A>G
ENST00000479437.5:n.487A>G
NM_000360.3:c.938A>G	NP_000351.2:p.Tyr313Cys
NM_199292.2:c.1031A>G	NP_954986.2:p.Tyr344Cys
NM_199293.2:c.1019A>G	NP_954987.2:p.Tyr340Cys
XM_011520335.1:c.950A>G	XP_011518637.1:p.Tyr317Cys
XM_011520335.2:c.950A>G	XP_011518637.1:p.Tyr317Cys
NM_000360.4:c.938A>G MANE Select	NP_000351.2:p.Tyr313Cys
NM_199292.3:c.1031A>G	NP_954986.2:p.Tyr344Cys
NM_199293.3:c.1019A>G	NP_954987.2:p.Tyr340Cys