Canonical Allele Identifier: CA379127113

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188249T>G (hg19) ; chr11:g.2167019T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167019T>G , CM000673.2:g.2167019T>G	GRCh38
NC_000011.9:g.2188249T>G , CM000673.1:g.2188249T>G	GRCh37
NC_000011.8:g.2144825T>G	NCBI36
NG_008128.1:g.9787A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.709A>C MANE Select	ENSP00000325951.4:p.Thr237Pro
ENST00000324155.8:c.*398A>C	ENSP00000325831.3:n.*398A>C
ENST00000333684.9:c.695+416A>C	ENSP00000328814.6:n.695+416A>C
ENST00000352909.7:c.709A>C	ENSP00000325951.3:p.Thr237Pro
ENST00000381168.7:c.*429A>C	ENSP00000370560.3:n.*429A>C
ENST00000381175.5:c.790A>C	ENSP00000370567.1:p.Thr264Pro
ENST00000381178.5:c.802A>C	ENSP00000370571.1:p.Thr268Pro
ENST00000412076.1:c.135+416A>C
ENST00000416223.5:c.136-251A>C
ENST00000469226.1:n.838A>C
ENST00000479437.5:n.258A>C
NM_000360.3:c.709A>C	NP_000351.2:p.Thr237Pro
NM_199292.2:c.802A>C	NP_954986.2:p.Thr268Pro
NM_199293.2:c.790A>C	NP_954987.2:p.Thr264Pro
XM_011520335.1:c.721A>C	XP_011518637.1:p.Thr241Pro
XM_011520335.2:c.721A>C	XP_011518637.1:p.Thr241Pro
NM_000360.4:c.709A>C MANE Select	NP_000351.2:p.Thr237Pro
NM_199292.3:c.802A>C	NP_954986.2:p.Thr268Pro
NM_199293.3:c.790A>C	NP_954987.2:p.Thr264Pro