Canonical Allele Identifier: CA216227801

Gene: TH

Linked Data

• dbSNP Id: rs902369349
• MyVariant Identifiers: chr11:g.2191078C>T (hg19) ; chr11:g.2169848C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169848C>T , CM000673.2:g.2169848C>T	GRCh38
NC_000011.9:g.2191078C>T , CM000673.1:g.2191078C>T	GRCh37
NC_000011.8:g.2147654C>T	NCBI36
NG_008128.1:g.6958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.114G>A MANE Select	ENSP00000325951.4:p.Arg38=
ENST00000324155.8:c.91-153G>A	ENSP00000325831.3:n.91-153G>A
ENST00000333684.9:c.114G>A	ENSP00000328814.6:p.Arg38=
ENST00000352909.7:c.114G>A	ENSP00000325951.3:p.Arg38=
ENST00000381168.7:c.103-153G>A	ENSP00000370560.3:n.103-153G>A
ENST00000381175.5:c.195G>A	ENSP00000370567.1:p.Arg65=
ENST00000381178.5:c.207G>A	ENSP00000370571.1:p.Arg69=
NM_000360.3:c.114G>A	NP_000351.2:p.Arg38=
NM_199292.2:c.207G>A	NP_954986.2:p.Arg69=
NM_199293.2:c.195G>A	NP_954987.2:p.Arg65=
XM_011520335.1:c.126G>A	XP_011518637.1:p.Arg42=
XM_011520335.2:c.126G>A	XP_011518637.1:p.Arg42=
NM_000360.4:c.114G>A MANE Select	NP_000351.2:p.Arg38=
NM_199292.3:c.207G>A	NP_954986.2:p.Arg69=
NM_199293.3:c.195G>A	NP_954987.2:p.Arg65=