Canonical Allele Identifier: CA379126109

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187873A>G (hg19) ; chr11:g.2166643A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166643A>G , CM000673.2:g.2166643A>G	GRCh38
NC_000011.9:g.2187873A>G , CM000673.1:g.2187873A>G	GRCh37
NC_000011.8:g.2144449A>G	NCBI36
NG_008128.1:g.10163T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.967T>C MANE Select	ENSP00000325951.4:p.Ser323Pro
ENST00000324155.8:c.*656T>C	ENSP00000325831.3:n.*656T>C
ENST00000333684.9:c.696-94T>C	ENSP00000328814.6:n.696-94T>C
ENST00000352909.7:c.967T>C	ENSP00000325951.3:p.Ser323Pro
ENST00000381168.7:c.*687T>C	ENSP00000370560.3:n.*687T>C
ENST00000381175.5:c.1048T>C	ENSP00000370567.1:p.Ser350Pro
ENST00000381178.5:c.1060T>C	ENSP00000370571.1:p.Ser354Pro
ENST00000412076.1:c.136-94T>C
ENST00000416223.5:c.261T>C
ENST00000461172.1:n.132T>C
ENST00000479437.5:n.516T>C
NM_000360.3:c.967T>C	NP_000351.2:p.Ser323Pro
NM_199292.2:c.1060T>C	NP_954986.2:p.Ser354Pro
NM_199293.2:c.1048T>C	NP_954987.2:p.Ser350Pro
XM_011520335.1:c.979T>C	XP_011518637.1:p.Ser327Pro
XM_011520335.2:c.979T>C	XP_011518637.1:p.Ser327Pro
NM_000360.4:c.967T>C MANE Select	NP_000351.2:p.Ser323Pro
NM_199292.3:c.1060T>C	NP_954986.2:p.Ser354Pro
NM_199293.3:c.1048T>C	NP_954987.2:p.Ser350Pro