Canonical Allele Identifier: CA2611970154

Gene: TH

Linked Data

• gnomAD v4: 11-2167810-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167810G>C , CM000673.2:g.2167810G>C	GRCh38
NC_000011.9:g.2189040G>C , CM000673.1:g.2189040G>C	GRCh37
NC_000011.8:g.2145616G>C	NCBI36
NG_008128.1:g.8996C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.644+56C>G MANE Select	ENSP00000325951.4:n.644+56C>G
ENST00000324155.8:c.*333+56C>G	ENSP00000325831.3:n.*333+56C>G
ENST00000333684.9:c.644+56C>G	ENSP00000328814.6:n.644+56C>G
ENST00000352909.7:c.644+56C>G	ENSP00000325951.3:n.644+56C>G
ENST00000381168.7:c.*333+56C>G	ENSP00000370560.3:n.*333+56C>G
ENST00000381175.5:c.725+56C>G	ENSP00000370567.1:n.725+56C>G
ENST00000381178.5:c.737+56C>G	ENSP00000370571.1:n.737+56C>G
ENST00000412076.1:c.84+56C>G
ENST00000416223.5:c.84+56C>G
ENST00000469226.1:n.449C>G
NM_000360.3:c.644+56C>G	NP_000351.2:n.644+56C>G
NM_199292.2:c.737+56C>G	NP_954986.2:n.737+56C>G
NM_199293.2:c.725+56C>G	NP_954987.2:n.725+56C>G
XM_011520335.1:c.656+56C>G	XP_011518637.1:n.656+56C>G
XM_011520335.2:c.656+56C>G	XP_011518637.1:n.656+56C>G
NM_000360.4:c.644+56C>G MANE Select	NP_000351.2:n.644+56C>G
NM_199292.3:c.737+56C>G	NP_954986.2:n.737+56C>G
NM_199293.3:c.725+56C>G	NP_954987.2:n.725+56C>G