Canonical Allele Identifier: CA379126163

Gene: TH

Linked Data

• gnomAD v4: 11-2166669-A-G
• MyVariant Identifiers: chr11:g.2187899A>G (hg19) ; chr11:g.2166669A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166669A>G , CM000673.2:g.2166669A>G	GRCh38
NC_000011.9:g.2187899A>G , CM000673.1:g.2187899A>G	GRCh37
NC_000011.8:g.2144475A>G	NCBI36
NG_008128.1:g.10137T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.941T>C MANE Select	ENSP00000325951.4:p.Ile314Thr
ENST00000324155.8:c.*630T>C	ENSP00000325831.3:n.*630T>C
ENST00000333684.9:c.696-120T>C	ENSP00000328814.6:n.696-120T>C
ENST00000352909.7:c.941T>C	ENSP00000325951.3:p.Ile314Thr
ENST00000381168.7:c.*661T>C	ENSP00000370560.3:n.*661T>C
ENST00000381175.5:c.1022T>C	ENSP00000370567.1:p.Ile341Thr
ENST00000381178.5:c.1034T>C	ENSP00000370571.1:p.Ile345Thr
ENST00000412076.1:c.136-120T>C
ENST00000416223.5:c.235T>C
ENST00000461172.1:n.106T>C
ENST00000479437.5:n.490T>C
NM_000360.3:c.941T>C	NP_000351.2:p.Ile314Thr
NM_199292.2:c.1034T>C	NP_954986.2:p.Ile345Thr
NM_199293.2:c.1022T>C	NP_954987.2:p.Ile341Thr
XM_011520335.1:c.953T>C	XP_011518637.1:p.Ile318Thr
XM_011520335.2:c.953T>C	XP_011518637.1:p.Ile318Thr
NM_000360.4:c.941T>C MANE Select	NP_000351.2:p.Ile314Thr
NM_199292.3:c.1034T>C	NP_954986.2:p.Ile345Thr
NM_199293.3:c.1022T>C	NP_954987.2:p.Ile341Thr