Canonical Allele Identifier: CA379125951

Gene: TH

Linked Data

• gnomAD v4: 11-2166494-C-A
• MyVariant Identifiers: chr11:g.2187724C>A (hg19) ; chr11:g.2166494C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166494C>A , CM000673.2:g.2166494C>A	GRCh38
NC_000011.9:g.2187724C>A , CM000673.1:g.2187724C>A	GRCh37
NC_000011.8:g.2144300C>A	NCBI36
NG_008128.1:g.10312G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1033G>T MANE Select	ENSP00000325951.4:p.Ala345Ser
ENST00000324155.8:c.*722G>T	ENSP00000325831.3:n.*722G>T
ENST00000333684.9:c.751G>T	ENSP00000328814.6:p.Ala251Ser
ENST00000352909.7:c.1033G>T	ENSP00000325951.3:p.Ala345Ser
ENST00000381168.7:c.*753G>T	ENSP00000370560.3:n.*753G>T
ENST00000381175.5:c.1114G>T	ENSP00000370567.1:p.Ala372Ser
ENST00000381178.5:c.1126G>T	ENSP00000370571.1:p.Ala376Ser
ENST00000412076.1:c.191G>T
ENST00000416223.5:c.327G>T
ENST00000461172.1:n.198G>T
ENST00000479437.5:n.582G>T
NM_000360.3:c.1033G>T	NP_000351.2:p.Ala345Ser
NM_199292.2:c.1126G>T	NP_954986.2:p.Ala376Ser
NM_199293.2:c.1114G>T	NP_954987.2:p.Ala372Ser
XM_011520335.1:c.1045G>T	XP_011518637.1:p.Ala349Ser
XM_011520335.2:c.1045G>T	XP_011518637.1:p.Ala349Ser
NM_000360.4:c.1033G>T MANE Select	NP_000351.2:p.Ala345Ser
NM_199292.3:c.1126G>T	NP_954986.2:p.Ala376Ser
NM_199293.3:c.1114G>T	NP_954987.2:p.Ala372Ser