Canonical Allele Identifier: CA379126553

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188135C>G (hg19) ; chr11:g.2166905C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166905C>G , CM000673.2:g.2166905C>G	GRCh38
NC_000011.9:g.2188135C>G , CM000673.1:g.2188135C>G	GRCh37
NC_000011.8:g.2144711C>G	NCBI36
NG_008128.1:g.9901G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.823G>C MANE Select	ENSP00000325951.4:p.Val275Leu
ENST00000324155.8:c.*512G>C	ENSP00000325831.3:n.*512G>C
ENST00000333684.9:c.696-356G>C	ENSP00000328814.6:n.696-356G>C
ENST00000352909.7:c.823G>C	ENSP00000325951.3:p.Val275Leu
ENST00000381168.7:c.*543G>C	ENSP00000370560.3:n.*543G>C
ENST00000381175.5:c.904G>C	ENSP00000370567.1:p.Val302Leu
ENST00000381178.5:c.916G>C	ENSP00000370571.1:p.Val306Leu
ENST00000412076.1:c.136-356G>C
ENST00000416223.5:c.136-137G>C
ENST00000469226.1:n.952G>C
ENST00000479437.5:n.372G>C
NM_000360.3:c.823G>C	NP_000351.2:p.Val275Leu
NM_199292.2:c.916G>C	NP_954986.2:p.Val306Leu
NM_199293.2:c.904G>C	NP_954987.2:p.Val302Leu
XM_011520335.1:c.835G>C	XP_011518637.1:p.Val279Leu
XM_011520335.2:c.835G>C	XP_011518637.1:p.Val279Leu
NM_000360.4:c.823G>C MANE Select	NP_000351.2:p.Val275Leu
NM_199292.3:c.916G>C	NP_954986.2:p.Val306Leu
NM_199293.3:c.904G>C	NP_954987.2:p.Val302Leu