Canonical Allele Identifier: CA216284996

Gene: TH

Linked Data

• dbSNP Id: rs1045472211
• MyVariant Identifiers: chr11:g.2187935C>G (hg19) ; chr11:g.2166705C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166705C>G , CM000673.2:g.2166705C>G	GRCh38
NC_000011.9:g.2187935C>G , CM000673.1:g.2187935C>G	GRCh37
NC_000011.8:g.2144511C>G	NCBI36
NG_008128.1:g.10101G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.905G>C MANE Select	ENSP00000325951.4:p.Ser302Thr
ENST00000324155.8:c.*594G>C	ENSP00000325831.3:n.*594G>C
ENST00000333684.9:c.696-156G>C	ENSP00000328814.6:n.696-156G>C
ENST00000352909.7:c.905G>C	ENSP00000325951.3:p.Ser302Thr
ENST00000381168.7:c.*625G>C	ENSP00000370560.3:n.*625G>C
ENST00000381175.5:c.986G>C	ENSP00000370567.1:p.Ser329Thr
ENST00000381178.5:c.998G>C	ENSP00000370571.1:p.Ser333Thr
ENST00000412076.1:c.136-156G>C
ENST00000416223.5:c.199G>C
ENST00000461172.1:n.70G>C
ENST00000479437.5:n.454G>C
NM_000360.3:c.905G>C	NP_000351.2:p.Ser302Thr
NM_199292.2:c.998G>C	NP_954986.2:p.Ser333Thr
NM_199293.2:c.986G>C	NP_954987.2:p.Ser329Thr
XM_011520335.1:c.917G>C	XP_011518637.1:p.Ser306Thr
XM_011520335.2:c.917G>C	XP_011518637.1:p.Ser306Thr
NM_000360.4:c.905G>C MANE Select	NP_000351.2:p.Ser302Thr
NM_199292.3:c.998G>C	NP_954986.2:p.Ser333Thr
NM_199293.3:c.986G>C	NP_954987.2:p.Ser329Thr