Canonical Allele Identifier: CA379126742

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188173C>G (hg19) ; chr11:g.2166943C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166943C>G , CM000673.2:g.2166943C>G	GRCh38
NC_000011.9:g.2188173C>G , CM000673.1:g.2188173C>G	GRCh37
NC_000011.8:g.2144749C>G	NCBI36
NG_008128.1:g.9863G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.785G>C MANE Select	ENSP00000325951.4:p.Ser262Thr
ENST00000324155.8:c.*474G>C	ENSP00000325831.3:n.*474G>C
ENST00000333684.9:c.696-394G>C	ENSP00000328814.6:n.696-394G>C
ENST00000352909.7:c.785G>C	ENSP00000325951.3:p.Ser262Thr
ENST00000381168.7:c.*505G>C	ENSP00000370560.3:n.*505G>C
ENST00000381175.5:c.866G>C	ENSP00000370567.1:p.Ser289Thr
ENST00000381178.5:c.878G>C	ENSP00000370571.1:p.Ser293Thr
ENST00000412076.1:c.136-394G>C
ENST00000416223.5:c.136-175G>C
ENST00000469226.1:n.914G>C
ENST00000479437.5:n.334G>C
NM_000360.3:c.785G>C	NP_000351.2:p.Ser262Thr
NM_199292.2:c.878G>C	NP_954986.2:p.Ser293Thr
NM_199293.2:c.866G>C	NP_954987.2:p.Ser289Thr
XM_011520335.1:c.797G>C	XP_011518637.1:p.Ser266Thr
XM_011520335.2:c.797G>C	XP_011518637.1:p.Ser266Thr
NM_000360.4:c.785G>C MANE Select	NP_000351.2:p.Ser262Thr
NM_199292.3:c.878G>C	NP_954986.2:p.Ser293Thr
NM_199293.3:c.866G>C	NP_954987.2:p.Ser289Thr