Canonical Allele Identifier: CA472414315

Gene: TH

Linked Data

• dbSNP Id: rs1353199306
• gnomAD v2: 11-2188139-C-T
• MyVariant Identifiers: chr11:g.2188139C>T (hg19) ; chr11:g.2166909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166909C>T , CM000673.2:g.2166909C>T	GRCh38
NC_000011.9:g.2188139C>T , CM000673.1:g.2188139C>T	GRCh37
NC_000011.8:g.2144715C>T	NCBI36
NG_008128.1:g.9897G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.819G>A MANE Select	ENSP00000325951.4:p.Glu273=
ENST00000324155.8:c.*508G>A	ENSP00000325831.3:n.*508G>A
ENST00000333684.9:c.696-360G>A	ENSP00000328814.6:n.696-360G>A
ENST00000352909.7:c.819G>A	ENSP00000325951.3:p.Glu273=
ENST00000381168.7:c.*539G>A	ENSP00000370560.3:n.*539G>A
ENST00000381175.5:c.900G>A	ENSP00000370567.1:p.Glu300=
ENST00000381178.5:c.912G>A	ENSP00000370571.1:p.Glu304=
ENST00000412076.1:c.136-360G>A
ENST00000416223.5:c.136-141G>A
ENST00000469226.1:n.948G>A
ENST00000479437.5:n.368G>A
NM_000360.3:c.819G>A	NP_000351.2:p.Glu273=
NM_199292.2:c.912G>A	NP_954986.2:p.Glu304=
NM_199293.2:c.900G>A	NP_954987.2:p.Glu300=
XM_011520335.1:c.831G>A	XP_011518637.1:p.Glu277=
XM_011520335.2:c.831G>A	XP_011518637.1:p.Glu277=
NM_000360.4:c.819G>A MANE Select	NP_000351.2:p.Glu273=
NM_199292.3:c.912G>A	NP_954986.2:p.Glu304=
NM_199293.3:c.900G>A	NP_954987.2:p.Glu300=