Canonical Allele Identifier: CA379126728

Gene: TH

Linked Data

• dbSNP Id: rs755536257
• gnomAD v2: 11-2188171-C-A
• MyVariant Identifiers: chr11:g.2188171C>A (hg19) ; chr11:g.2166941C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166941C>A , CM000673.2:g.2166941C>A	GRCh38
NC_000011.9:g.2188171C>A , CM000673.1:g.2188171C>A	GRCh37
NC_000011.8:g.2144747C>A	NCBI36
NG_008128.1:g.9865G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.787G>T MANE Select	ENSP00000325951.4:p.Gly263Cys
ENST00000324155.8:c.*476G>T	ENSP00000325831.3:n.*476G>T
ENST00000333684.9:c.696-392G>T	ENSP00000328814.6:n.696-392G>T
ENST00000352909.7:c.787G>T	ENSP00000325951.3:p.Gly263Cys
ENST00000381168.7:c.*507G>T	ENSP00000370560.3:n.*507G>T
ENST00000381175.5:c.868G>T	ENSP00000370567.1:p.Gly290Cys
ENST00000381178.5:c.880G>T	ENSP00000370571.1:p.Gly294Cys
ENST00000412076.1:c.136-392G>T
ENST00000416223.5:c.136-173G>T
ENST00000469226.1:n.916G>T
ENST00000479437.5:n.336G>T
NM_000360.3:c.787G>T	NP_000351.2:p.Gly263Cys
NM_199292.2:c.880G>T	NP_954986.2:p.Gly294Cys
NM_199293.2:c.868G>T	NP_954987.2:p.Gly290Cys
XM_011520335.1:c.799G>T	XP_011518637.1:p.Gly267Cys
XM_011520335.2:c.799G>T	XP_011518637.1:p.Gly267Cys
NM_000360.4:c.787G>T MANE Select	NP_000351.2:p.Gly263Cys
NM_199292.3:c.880G>T	NP_954986.2:p.Gly294Cys
NM_199293.3:c.868G>T	NP_954987.2:p.Gly290Cys