Canonical Allele Identifier: CA379126262

Gene: TH

Linked Data

• gnomAD v4: 11-2166714-A-C
• MyVariant Identifiers: chr11:g.2187944A>C (hg19) ; chr11:g.2166714A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166714A>C , CM000673.2:g.2166714A>C	GRCh38
NC_000011.9:g.2187944A>C , CM000673.1:g.2187944A>C	GRCh37
NC_000011.8:g.2144520A>C	NCBI36
NG_008128.1:g.10092T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.896T>G MANE Select	ENSP00000325951.4:p.Phe299Cys
ENST00000324155.8:c.*585T>G	ENSP00000325831.3:n.*585T>G
ENST00000333684.9:c.696-165T>G	ENSP00000328814.6:n.696-165T>G
ENST00000352909.7:c.896T>G	ENSP00000325951.3:p.Phe299Cys
ENST00000381168.7:c.*616T>G	ENSP00000370560.3:n.*616T>G
ENST00000381175.5:c.977T>G	ENSP00000370567.1:p.Phe326Cys
ENST00000381178.5:c.989T>G	ENSP00000370571.1:p.Phe330Cys
ENST00000412076.1:c.136-165T>G
ENST00000416223.5:c.190T>G
ENST00000461172.1:n.61T>G
ENST00000479437.5:n.445T>G
NM_000360.3:c.896T>G	NP_000351.2:p.Phe299Cys
NM_199292.2:c.989T>G	NP_954986.2:p.Phe330Cys
NM_199293.2:c.977T>G	NP_954987.2:p.Phe326Cys
XM_011520335.1:c.908T>G	XP_011518637.1:p.Phe303Cys
XM_011520335.2:c.908T>G	XP_011518637.1:p.Phe303Cys
NM_000360.4:c.896T>G MANE Select	NP_000351.2:p.Phe299Cys
NM_199292.3:c.989T>G	NP_954986.2:p.Phe330Cys
NM_199293.3:c.977T>G	NP_954987.2:p.Phe326Cys