Canonical Allele Identifier: CA379126174

Gene: TH

Linked Data

• gnomAD v4: 11-2166673-A-G
• MyVariant Identifiers: chr11:g.2187903A>G (hg19) ; chr11:g.2166673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166673A>G , CM000673.2:g.2166673A>G	GRCh38
NC_000011.9:g.2187903A>G , CM000673.1:g.2187903A>G	GRCh37
NC_000011.8:g.2144479A>G	NCBI36
NG_008128.1:g.10133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.937T>C MANE Select	ENSP00000325951.4:p.Tyr313His
ENST00000324155.8:c.*626T>C	ENSP00000325831.3:n.*626T>C
ENST00000333684.9:c.696-124T>C	ENSP00000328814.6:n.696-124T>C
ENST00000352909.7:c.937T>C	ENSP00000325951.3:p.Tyr313His
ENST00000381168.7:c.*657T>C	ENSP00000370560.3:n.*657T>C
ENST00000381175.5:c.1018T>C	ENSP00000370567.1:p.Tyr340His
ENST00000381178.5:c.1030T>C	ENSP00000370571.1:p.Tyr344His
ENST00000412076.1:c.136-124T>C
ENST00000416223.5:c.231T>C
ENST00000461172.1:n.102T>C
ENST00000479437.5:n.486T>C
NM_000360.3:c.937T>C	NP_000351.2:p.Tyr313His
NM_199292.2:c.1030T>C	NP_954986.2:p.Tyr344His
NM_199293.2:c.1018T>C	NP_954987.2:p.Tyr340His
XM_011520335.1:c.949T>C	XP_011518637.1:p.Tyr317His
XM_011520335.2:c.949T>C	XP_011518637.1:p.Tyr317His
NM_000360.4:c.937T>C MANE Select	NP_000351.2:p.Tyr313His
NM_199292.3:c.1030T>C	NP_954986.2:p.Tyr344His
NM_199293.3:c.1018T>C	NP_954987.2:p.Tyr340His