Canonical Allele Identifier: CA1948012145
Gene: TH HGNC NCBI

Linked Data

dbSNP Id: rs1846268308

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171789C>T , CM000673.2:g.2171789C>T GRCh38
NC_000011.9:g.2193019C>T , CM000673.1:g.2193019C>T GRCh37
NC_000011.8:g.2149595C>T NCBI36
NG_008128.1:g.5017G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.-3G>A MANE Select ENSP00000325951.4:n.-3G>A
ENST00000324155.8:c.-3G>A ENSP00000325831.3:n.-3G>A
ENST00000333684.9:c.-3G>A ENSP00000328814.6:n.-3G>A
ENST00000352909.7:c.-3G>A ENSP00000325951.3:n.-3G>A
ENST00000381168.7:c.-3G>A ENSP00000370560.3:n.-3G>A
ENST00000381175.5:c.-3G>A ENSP00000370567.1:n.-3G>A
ENST00000381178.5:c.-3G>A ENSP00000370571.1:n.-3G>A
NM_000360.3:c.-3G>A NP_000351.2:n.-3G>A
NM_199292.2:c.-3G>A NP_954986.2:n.-3G>A
NM_199293.2:c.-3G>A NP_954987.2:n.-3G>A
XM_011520335.1:c.-3G>A XP_011518637.1:n.-3G>A
XM_011520335.2:c.-3G>A XP_011518637.1:n.-3G>A
NM_000360.4:c.-3G>A MANE Select NP_000351.2:n.-3G>A
NM_199292.3:c.-3G>A NP_954986.2:n.-3G>A
NM_199293.3:c.-3G>A NP_954987.2:n.-3G>A