Canonical Allele Identifier: CA379126171

Gene: TH

Linked Data

• ClinVar Variation Id: 3176814
• ClinVar RCV Id: RCV004474674
• MyVariant Identifiers: chr11:g.2187902T>G (hg19) ; chr11:g.2166672T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.938A>C MANE Select	ENSP00000325951.4:p.Tyr313Ser
ENST00000324155.8:c.*627A>C	ENSP00000325831.3:n.*627A>C
ENST00000333684.9:c.696-123A>C	ENSP00000328814.6:n.696-123A>C
ENST00000352909.7:c.938A>C	ENSP00000325951.3:p.Tyr313Ser
ENST00000381168.7:c.*658A>C	ENSP00000370560.3:n.*658A>C
ENST00000381175.5:c.1019A>C	ENSP00000370567.1:p.Tyr340Ser
ENST00000381178.5:c.1031A>C	ENSP00000370571.1:p.Tyr344Ser
ENST00000412076.1:c.136-123A>C
ENST00000416223.5:c.232A>C
ENST00000461172.1:n.103A>C
ENST00000479437.5:n.487A>C
NM_000360.3:c.938A>C	NP_000351.2:p.Tyr313Ser
NM_199292.2:c.1031A>C	NP_954986.2:p.Tyr344Ser
NM_199293.2:c.1019A>C	NP_954987.2:p.Tyr340Ser
XM_011520335.1:c.950A>C	XP_011518637.1:p.Tyr317Ser
XM_011520335.2:c.950A>C	XP_011518637.1:p.Tyr317Ser
NM_000360.4:c.938A>C MANE Select	NP_000351.2:p.Tyr313Ser
NM_199292.3:c.1031A>C	NP_954986.2:p.Tyr344Ser
NM_199293.3:c.1019A>C	NP_954987.2:p.Tyr340Ser