Canonical Allele Identifier: CA5818767
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs751157627
gnomAD v2: 11-2190996-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2169766C>T , CM000673.2:g.2169766C>T GRCh38
NC_000011.9:g.2190996C>T , CM000673.1:g.2190996C>T GRCh37
NC_000011.8:g.2147572C>T NCBI36
NG_008128.1:g.7040G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.196G>A MANE Select ENSP00000325951.4:p.Asp66Asn
ENST00000324155.8:c.91-71G>A ENSP00000325831.3:n.91-71G>A
ENST00000333684.9:c.196G>A ENSP00000328814.6:p.Asp66Asn
ENST00000352909.7:c.196G>A ENSP00000325951.3:p.Asp66Asn
ENST00000381168.7:c.103-71G>A ENSP00000370560.3:n.103-71G>A
ENST00000381175.5:c.277G>A ENSP00000370567.1:p.Asp93Asn
ENST00000381178.5:c.289G>A ENSP00000370571.1:p.Asp97Asn
NM_000360.3:c.196G>A NP_000351.2:p.Asp66Asn
NM_199292.2:c.289G>A NP_954986.2:p.Asp97Asn
NM_199293.2:c.277G>A NP_954987.2:p.Asp93Asn
XM_011520335.1:c.208G>A XP_011518637.1:p.Asp70Asn
XM_011520335.2:c.208G>A XP_011518637.1:p.Asp70Asn
NM_000360.4:c.196G>A MANE Select NP_000351.2:p.Asp66Asn
NM_199292.3:c.289G>A NP_954986.2:p.Asp97Asn
NM_199293.3:c.277G>A NP_954987.2:p.Asp93Asn