Canonical Allele Identifier: CA379126263

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187944A>G (hg19) ; chr11:g.2166714A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166714A>G , CM000673.2:g.2166714A>G	GRCh38
NC_000011.9:g.2187944A>G , CM000673.1:g.2187944A>G	GRCh37
NC_000011.8:g.2144520A>G	NCBI36
NG_008128.1:g.10092T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.896T>C MANE Select	ENSP00000325951.4:p.Phe299Ser
ENST00000324155.8:c.*585T>C	ENSP00000325831.3:n.*585T>C
ENST00000333684.9:c.696-165T>C	ENSP00000328814.6:n.696-165T>C
ENST00000352909.7:c.896T>C	ENSP00000325951.3:p.Phe299Ser
ENST00000381168.7:c.*616T>C	ENSP00000370560.3:n.*616T>C
ENST00000381175.5:c.977T>C	ENSP00000370567.1:p.Phe326Ser
ENST00000381178.5:c.989T>C	ENSP00000370571.1:p.Phe330Ser
ENST00000412076.1:c.136-165T>C
ENST00000416223.5:c.190T>C
ENST00000461172.1:n.61T>C
ENST00000479437.5:n.445T>C
NM_000360.3:c.896T>C	NP_000351.2:p.Phe299Ser
NM_199292.2:c.989T>C	NP_954986.2:p.Phe330Ser
NM_199293.2:c.977T>C	NP_954987.2:p.Phe326Ser
XM_011520335.1:c.908T>C	XP_011518637.1:p.Phe303Ser
XM_011520335.2:c.908T>C	XP_011518637.1:p.Phe303Ser
NM_000360.4:c.896T>C MANE Select	NP_000351.2:p.Phe299Ser
NM_199292.3:c.989T>C	NP_954986.2:p.Phe330Ser
NM_199293.3:c.977T>C	NP_954987.2:p.Phe326Ser