Canonical Allele Identifier: CA379127121

Gene: TH

Linked Data

• gnomAD v4: 11-2167021-T-C
• MyVariant Identifiers: chr11:g.2188251T>C (hg19) ; chr11:g.2167021T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167021T>C , CM000673.2:g.2167021T>C	GRCh38
NC_000011.9:g.2188251T>C , CM000673.1:g.2188251T>C	GRCh37
NC_000011.8:g.2144827T>C	NCBI36
NG_008128.1:g.9785A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.707A>G MANE Select	ENSP00000325951.4:p.Tyr236Cys
ENST00000324155.8:c.*396A>G	ENSP00000325831.3:n.*396A>G
ENST00000333684.9:c.695+414A>G	ENSP00000328814.6:n.695+414A>G
ENST00000352909.7:c.707A>G	ENSP00000325951.3:p.Tyr236Cys
ENST00000381168.7:c.*427A>G	ENSP00000370560.3:n.*427A>G
ENST00000381175.5:c.788A>G	ENSP00000370567.1:p.Tyr263Cys
ENST00000381178.5:c.800A>G	ENSP00000370571.1:p.Tyr267Cys
ENST00000412076.1:c.135+414A>G
ENST00000416223.5:c.136-253A>G
ENST00000469226.1:n.836A>G
ENST00000479437.5:n.256A>G
NM_000360.3:c.707A>G	NP_000351.2:p.Tyr236Cys
NM_199292.2:c.800A>G	NP_954986.2:p.Tyr267Cys
NM_199293.2:c.788A>G	NP_954987.2:p.Tyr263Cys
XM_011520335.1:c.719A>G	XP_011518637.1:p.Tyr240Cys
XM_011520335.2:c.719A>G	XP_011518637.1:p.Tyr240Cys
NM_000360.4:c.707A>G MANE Select	NP_000351.2:p.Tyr236Cys
NM_199292.3:c.800A>G	NP_954986.2:p.Tyr267Cys
NM_199293.3:c.788A>G	NP_954987.2:p.Tyr263Cys