Canonical Allele Identifier: CA379126146

Gene: TH

Linked Data

• dbSNP Id: rs1249838017
• gnomAD v3: 11-2166661-C-T
• gnomAD v4: 11-2166661-C-T
• MyVariant Identifiers: chr11:g.2187891C>T (hg19) ; chr11:g.2166661C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166661C>T , CM000673.2:g.2166661C>T	GRCh38
NC_000011.9:g.2187891C>T , CM000673.1:g.2187891C>T	GRCh37
NC_000011.8:g.2144467C>T	NCBI36
NG_008128.1:g.10145G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.949G>A MANE Select	ENSP00000325951.4:p.Ala317Thr
ENST00000324155.8:c.*638G>A	ENSP00000325831.3:n.*638G>A
ENST00000333684.9:c.696-112G>A	ENSP00000328814.6:n.696-112G>A
ENST00000352909.7:c.949G>A	ENSP00000325951.3:p.Ala317Thr
ENST00000381168.7:c.*669G>A	ENSP00000370560.3:n.*669G>A
ENST00000381175.5:c.1030G>A	ENSP00000370567.1:p.Ala344Thr
ENST00000381178.5:c.1042G>A	ENSP00000370571.1:p.Ala348Thr
ENST00000412076.1:c.136-112G>A
ENST00000416223.5:c.243G>A
ENST00000461172.1:n.114G>A
ENST00000479437.5:n.498G>A
NM_000360.3:c.949G>A	NP_000351.2:p.Ala317Thr
NM_199292.2:c.1042G>A	NP_954986.2:p.Ala348Thr
NM_199293.2:c.1030G>A	NP_954987.2:p.Ala344Thr
XM_011520335.1:c.961G>A	XP_011518637.1:p.Ala321Thr
XM_011520335.2:c.961G>A	XP_011518637.1:p.Ala321Thr
NM_000360.4:c.949G>A MANE Select	NP_000351.2:p.Ala317Thr
NM_199292.3:c.1042G>A	NP_954986.2:p.Ala348Thr
NM_199293.3:c.1030G>A	NP_954987.2:p.Ala344Thr