Canonical Allele Identifier: CA5818905
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs753422997
ExAC: 11:2193036 G / A
gnomAD v2: 11-2193036-G-A
gnomAD v3: 11-2171806-G-A
gnomAD v4: 11-2171806-G-A
MyVariant Identifiers: chr11:g.2193036G>A (hg19) chr11:g.2171806G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171806G>A , CM000673.2:g.2171806G>A GRCh38
NC_000011.9:g.2193036G>A , CM000673.1:g.2193036G>A GRCh37
NC_000011.8:g.2149612G>A NCBI36
NG_008128.1:g.5000C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.-20C>T MANE Select ENSP00000325951.4:n.-20C>T
ENST00000352909.7:c.-20C>T ENSP00000325951.3:n.-20C>T
XM_011520335.1:c.-20C>T XP_011518637.1:n.-20C>T
XM_011520335.2:c.-20C>T XP_011518637.1:n.-20C>T
NM_000360.4:c.-20C>T MANE Select NP_000351.2:n.-20C>T
NM_199292.3:c.-20C>T NP_954986.2:n.-20C>T
NM_199293.3:c.-20C>T NP_954987.2:n.-20C>T
Search 100 bp 5'
Search 100 bp 3'