Canonical Allele Identifier: CA379127005

Gene: TH

Linked Data

• gnomAD v4: 11-2166997-G-T
• MyVariant Identifiers: chr11:g.2188227G>T (hg19) ; chr11:g.2166997G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166997G>T , CM000673.2:g.2166997G>T	GRCh38
NC_000011.9:g.2188227G>T , CM000673.1:g.2188227G>T	GRCh37
NC_000011.8:g.2144803G>T	NCBI36
NG_008128.1:g.9809C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.731C>A MANE Select	ENSP00000325951.4:p.Ala244Asp
ENST00000324155.8:c.*420C>A	ENSP00000325831.3:n.*420C>A
ENST00000333684.9:c.695+438C>A	ENSP00000328814.6:n.695+438C>A
ENST00000352909.7:c.731C>A	ENSP00000325951.3:p.Ala244Asp
ENST00000381168.7:c.*451C>A	ENSP00000370560.3:n.*451C>A
ENST00000381175.5:c.812C>A	ENSP00000370567.1:p.Ala271Asp
ENST00000381178.5:c.824C>A	ENSP00000370571.1:p.Ala275Asp
ENST00000412076.1:c.135+438C>A
ENST00000416223.5:c.136-229C>A
ENST00000469226.1:n.860C>A
ENST00000479437.5:n.280C>A
NM_000360.3:c.731C>A	NP_000351.2:p.Ala244Asp
NM_199292.2:c.824C>A	NP_954986.2:p.Ala275Asp
NM_199293.2:c.812C>A	NP_954987.2:p.Ala271Asp
XM_011520335.1:c.743C>A	XP_011518637.1:p.Ala248Asp
XM_011520335.2:c.743C>A	XP_011518637.1:p.Ala248Asp
NM_000360.4:c.731C>A MANE Select	NP_000351.2:p.Ala244Asp
NM_199292.3:c.824C>A	NP_954986.2:p.Ala275Asp
NM_199293.3:c.812C>A	NP_954987.2:p.Ala271Asp