Canonical Allele Identifier: CA2611984314
Gene: TH HGNC NCBI

Linked Data

gnomAD v4: 11-2171811-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2171811C>G , CM000673.2:g.2171811C>G GRCh38
NC_000011.9:g.2193041C>G , CM000673.1:g.2193041C>G GRCh37
NC_000011.8:g.2149617C>G NCBI36
NG_008128.1:g.4995G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352909.8:c.-25G>C MANE Select ENSP00000325951.4:n.-25G>C
ENST00000352909.7:c.-25G>C ENSP00000325951.3:n.-25G>C
XM_011520335.1:c.-25G>C XP_011518637.1:n.-25G>C
XM_011520335.2:c.-25G>C XP_011518637.1:n.-25G>C
NM_000360.4:c.-25G>C MANE Select NP_000351.2:n.-25G>C
NM_199292.3:c.-25G>C NP_954986.2:n.-25G>C
NM_199293.3:c.-25G>C NP_954987.2:n.-25G>C