Canonical Allele Identifier: CA379128256

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2189163C>A (hg19) ; chr11:g.2167933C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167933C>A , CM000673.2:g.2167933C>A	GRCh38
NC_000011.9:g.2189163C>A , CM000673.1:g.2189163C>A	GRCh37
NC_000011.8:g.2145739C>A	NCBI36
NG_008128.1:g.8873G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.577G>T MANE Select	ENSP00000325951.4:p.Gly193Cys
ENST00000324155.8:c.*266G>T	ENSP00000325831.3:n.*266G>T
ENST00000333684.9:c.577G>T	ENSP00000328814.6:p.Gly193Cys
ENST00000352909.7:c.577G>T	ENSP00000325951.3:p.Gly193Cys
ENST00000381168.7:c.*266G>T	ENSP00000370560.3:n.*266G>T
ENST00000381175.5:c.658G>T	ENSP00000370567.1:p.Gly220Cys
ENST00000381178.5:c.670G>T	ENSP00000370571.1:p.Gly224Cys
ENST00000412076.1:c.17G>T
ENST00000416223.5:c.17G>T
ENST00000469226.1:n.326G>T
NM_000360.3:c.577G>T	NP_000351.2:p.Gly193Cys
NM_199292.2:c.670G>T	NP_954986.2:p.Gly224Cys
NM_199293.2:c.658G>T	NP_954987.2:p.Gly220Cys
XM_011520335.1:c.589G>T	XP_011518637.1:p.Gly197Cys
XM_011520335.2:c.589G>T	XP_011518637.1:p.Gly197Cys
NM_000360.4:c.577G>T MANE Select	NP_000351.2:p.Gly193Cys
NM_199292.3:c.670G>T	NP_954986.2:p.Gly224Cys
NM_199293.3:c.658G>T	NP_954987.2:p.Gly220Cys