Canonical Allele Identifier: CA379125042
Gene: TH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2165287A>C , CM000673.2:g.2165287A>C GRCh38
NC_000011.9:g.2186517A>C , CM000673.1:g.2186517A>C GRCh37
NC_000011.8:g.2143093A>C NCBI36
NG_007114.1:g.908T>G
NG_008128.1:g.11519T>G
NG_050578.1:g.923T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.1279T>G MANE Select ENSP00000325951.4:p.Tyr427Asp
ENST00000333684.9:c.997T>G ENSP00000328814.6:p.Tyr333Asp
ENST00000352909.7:c.1279T>G ENSP00000325951.3:p.Tyr427Asp
ENST00000381175.5:c.1360T>G ENSP00000370567.1:p.Tyr454Asp
ENST00000381178.5:c.1372T>G ENSP00000370571.1:p.Tyr458Asp
NM_000360.3:c.1279T>G NP_000351.2:p.Tyr427Asp
NM_199292.2:c.1372T>G NP_954986.2:p.Tyr458Asp
NM_199293.2:c.1360T>G NP_954987.2:p.Tyr454Asp
XM_011520335.1:c.1291T>G XP_011518637.1:p.Tyr431Asp
XM_011520335.2:c.1291T>G XP_011518637.1:p.Tyr431Asp
NM_000360.4:c.1279T>G MANE Select NP_000351.2:p.Tyr427Asp
NM_199292.3:c.1372T>G NP_954986.2:p.Tyr458Asp
NM_199293.3:c.1360T>G NP_954987.2:p.Tyr454Asp