Canonical Allele Identifier: CA379125963

Gene: TH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1028C>A MANE Select	ENSP00000325951.4:p.Thr343Asn
ENST00000324155.8:c.*717C>A	ENSP00000325831.3:n.*717C>A
ENST00000333684.9:c.746C>A	ENSP00000328814.6:p.Thr249Asn
ENST00000352909.7:c.1028C>A	ENSP00000325951.3:p.Thr343Asn
ENST00000381168.7:c.*748C>A	ENSP00000370560.3:n.*748C>A
ENST00000381175.5:c.1109C>A	ENSP00000370567.1:p.Thr370Asn
ENST00000381178.5:c.1121C>A	ENSP00000370571.1:p.Thr374Asn
ENST00000412076.1:c.186C>A
ENST00000416223.5:c.322C>A
ENST00000461172.1:n.193C>A
ENST00000479437.5:n.577C>A
NM_000360.3:c.1028C>A	NP_000351.2:p.Thr343Asn
NM_199292.2:c.1121C>A	NP_954986.2:p.Thr374Asn
NM_199293.2:c.1109C>A	NP_954987.2:p.Thr370Asn
XM_011520335.1:c.1040C>A	XP_011518637.1:p.Thr347Asn
XM_011520335.2:c.1040C>A	XP_011518637.1:p.Thr347Asn
NM_000360.4:c.1028C>A MANE Select	NP_000351.2:p.Thr343Asn
NM_199292.3:c.1121C>A	NP_954986.2:p.Thr374Asn
NM_199293.3:c.1109C>A	NP_954987.2:p.Thr370Asn