Canonical Allele Identifier: CA379125942

Gene: TH

Linked Data

• gnomAD v4: 11-2166490-T-A
• MyVariant Identifiers: chr11:g.2187720T>A (hg19) ; chr11:g.2166490T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166490T>A , CM000673.2:g.2166490T>A	GRCh38
NC_000011.9:g.2187720T>A , CM000673.1:g.2187720T>A	GRCh37
NC_000011.8:g.2144296T>A	NCBI36
NG_008128.1:g.10316A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1037A>T MANE Select	ENSP00000325951.4:p.Gln346Leu
ENST00000324155.8:c.*726A>T	ENSP00000325831.3:n.*726A>T
ENST00000333684.9:c.755A>T	ENSP00000328814.6:p.Gln252Leu
ENST00000352909.7:c.1037A>T	ENSP00000325951.3:p.Gln346Leu
ENST00000381168.7:c.*757A>T	ENSP00000370560.3:n.*757A>T
ENST00000381175.5:c.1118A>T	ENSP00000370567.1:p.Gln373Leu
ENST00000381178.5:c.1130A>T	ENSP00000370571.1:p.Gln377Leu
ENST00000412076.1:c.195A>T
ENST00000416223.5:c.331A>T
ENST00000461172.1:n.202A>T
ENST00000479437.5:n.586A>T
NM_000360.3:c.1037A>T	NP_000351.2:p.Gln346Leu
NM_199292.2:c.1130A>T	NP_954986.2:p.Gln377Leu
NM_199293.2:c.1118A>T	NP_954987.2:p.Gln373Leu
XM_011520335.1:c.1049A>T	XP_011518637.1:p.Gln350Leu
XM_011520335.2:c.1049A>T	XP_011518637.1:p.Gln350Leu
NM_000360.4:c.1037A>T MANE Select	NP_000351.2:p.Gln346Leu
NM_199292.3:c.1130A>T	NP_954986.2:p.Gln377Leu
NM_199293.3:c.1118A>T	NP_954987.2:p.Gln373Leu