Canonical Allele Identifier: CA379126198

Gene: TH

Linked Data

• dbSNP Id: rs1241125507
• gnomAD v4: 11-2166683-C-G
• MyVariant Identifiers: chr11:g.2187913C>G (hg19) ; chr11:g.2166683C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166683C>G , CM000673.2:g.2166683C>G	GRCh38
NC_000011.9:g.2187913C>G , CM000673.1:g.2187913C>G	GRCh37
NC_000011.8:g.2144489C>G	NCBI36
NG_008128.1:g.10123G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.927G>C MANE Select	ENSP00000325951.4:p.Gln309His
ENST00000324155.8:c.*616G>C	ENSP00000325831.3:n.*616G>C
ENST00000333684.9:c.696-134G>C	ENSP00000328814.6:n.696-134G>C
ENST00000352909.7:c.927G>C	ENSP00000325951.3:p.Gln309His
ENST00000381168.7:c.*647G>C	ENSP00000370560.3:n.*647G>C
ENST00000381175.5:c.1008G>C	ENSP00000370567.1:p.Gln336His
ENST00000381178.5:c.1020G>C	ENSP00000370571.1:p.Gln340His
ENST00000412076.1:c.136-134G>C
ENST00000416223.5:c.221G>C
ENST00000461172.1:n.92G>C
ENST00000479437.5:n.476G>C
NM_000360.3:c.927G>C	NP_000351.2:p.Gln309His
NM_199292.2:c.1020G>C	NP_954986.2:p.Gln340His
NM_199293.2:c.1008G>C	NP_954987.2:p.Gln336His
XM_011520335.1:c.939G>C	XP_011518637.1:p.Gln313His
XM_011520335.2:c.939G>C	XP_011518637.1:p.Gln313His
NM_000360.4:c.927G>C MANE Select	NP_000351.2:p.Gln309His
NM_199292.3:c.1020G>C	NP_954986.2:p.Gln340His
NM_199293.3:c.1008G>C	NP_954987.2:p.Gln336His