Canonical Allele Identifier: CA5818496

Gene: TH

Linked Data

• dbSNP Id: rs781468666
• ExAC: 11:2188192 C / A
• gnomAD v2: 11-2188192-C-A
• gnomAD v4: 11-2166962-C-A
• MyVariant Identifiers: chr11:g.2188192C>A (hg19) ; chr11:g.2166962C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166962C>A , CM000673.2:g.2166962C>A	GRCh38
NC_000011.9:g.2188192C>A , CM000673.1:g.2188192C>A	GRCh37
NC_000011.8:g.2144768C>A	NCBI36
NG_008128.1:g.9844G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.766G>T MANE Select	ENSP00000325951.4:p.Ala256Ser
ENST00000324155.8:c.*455G>T	ENSP00000325831.3:n.*455G>T
ENST00000333684.9:c.696-413G>T	ENSP00000328814.6:n.696-413G>T
ENST00000352909.7:c.766G>T	ENSP00000325951.3:p.Ala256Ser
ENST00000381168.7:c.*486G>T	ENSP00000370560.3:n.*486G>T
ENST00000381175.5:c.847G>T	ENSP00000370567.1:p.Ala283Ser
ENST00000381178.5:c.859G>T	ENSP00000370571.1:p.Ala287Ser
ENST00000412076.1:c.136-413G>T
ENST00000416223.5:c.136-194G>T
ENST00000469226.1:n.895G>T
ENST00000479437.5:n.315G>T
NM_000360.3:c.766G>T	NP_000351.2:p.Ala256Ser
NM_199292.2:c.859G>T	NP_954986.2:p.Ala287Ser
NM_199293.2:c.847G>T	NP_954987.2:p.Ala283Ser
XM_011520335.1:c.778G>T	XP_011518637.1:p.Ala260Ser
XM_011520335.2:c.778G>T	XP_011518637.1:p.Ala260Ser
NM_000360.4:c.766G>T MANE Select	NP_000351.2:p.Ala256Ser
NM_199292.3:c.859G>T	NP_954986.2:p.Ala287Ser
NM_199293.3:c.847G>T	NP_954987.2:p.Ala283Ser