Canonical Allele Identifier: CA379125962

Gene: TH

Linked Data

• gnomAD v4: 11-2166499-G-C
• MyVariant Identifiers: chr11:g.2187729G>C (hg19) ; chr11:g.2166499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166499G>C , CM000673.2:g.2166499G>C	GRCh38
NC_000011.9:g.2187729G>C , CM000673.1:g.2187729G>C	GRCh37
NC_000011.8:g.2144305G>C	NCBI36
NG_008128.1:g.10307C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1028C>G MANE Select	ENSP00000325951.4:p.Thr343Ser
ENST00000324155.8:c.*717C>G	ENSP00000325831.3:n.*717C>G
ENST00000333684.9:c.746C>G	ENSP00000328814.6:p.Thr249Ser
ENST00000352909.7:c.1028C>G	ENSP00000325951.3:p.Thr343Ser
ENST00000381168.7:c.*748C>G	ENSP00000370560.3:n.*748C>G
ENST00000381175.5:c.1109C>G	ENSP00000370567.1:p.Thr370Ser
ENST00000381178.5:c.1121C>G	ENSP00000370571.1:p.Thr374Ser
ENST00000412076.1:c.186C>G
ENST00000416223.5:c.322C>G
ENST00000461172.1:n.193C>G
ENST00000479437.5:n.577C>G
NM_000360.3:c.1028C>G	NP_000351.2:p.Thr343Ser
NM_199292.2:c.1121C>G	NP_954986.2:p.Thr374Ser
NM_199293.2:c.1109C>G	NP_954987.2:p.Thr370Ser
XM_011520335.1:c.1040C>G	XP_011518637.1:p.Thr347Ser
XM_011520335.2:c.1040C>G	XP_011518637.1:p.Thr347Ser
NM_000360.4:c.1028C>G MANE Select	NP_000351.2:p.Thr343Ser
NM_199292.3:c.1121C>G	NP_954986.2:p.Thr374Ser
NM_199293.3:c.1109C>G	NP_954987.2:p.Thr370Ser