Canonical Allele Identifier: CA472413896

Gene: TH

Linked Data

• gnomAD v4: 11-2166510-C-A
• MyVariant Identifiers: chr11:g.2187740C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166510C>A , CM000673.2:g.2166510C>A	GRCh38
NC_000011.9:g.2187740C>A , CM000673.1:g.2187740C>A	GRCh37
NC_000011.8:g.2144316C>A	NCBI36
NG_008128.1:g.10296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1017G>T MANE Select	ENSP00000325951.4:p.Leu339=
ENST00000324155.8:c.*706G>T	ENSP00000325831.3:n.*706G>T
ENST00000333684.9:c.735G>T	ENSP00000328814.6:p.Leu245=
ENST00000352909.7:c.1017G>T	ENSP00000325951.3:p.Leu339=
ENST00000381168.7:c.*737G>T	ENSP00000370560.3:n.*737G>T
ENST00000381175.5:c.1098G>T	ENSP00000370567.1:p.Leu366=
ENST00000381178.5:c.1110G>T	ENSP00000370571.1:p.Leu370=
ENST00000412076.1:c.175G>T
ENST00000416223.5:c.311G>T
ENST00000461172.1:n.182G>T
ENST00000479437.5:n.566G>T
NM_000360.3:c.1017G>T	NP_000351.2:p.Leu339=
NM_199292.2:c.1110G>T	NP_954986.2:p.Leu370=
NM_199293.2:c.1098G>T	NP_954987.2:p.Leu366=
XM_011520335.1:c.1029G>T	XP_011518637.1:p.Leu343=
XM_011520335.2:c.1029G>T	XP_011518637.1:p.Leu343=
NM_000360.4:c.1017G>T MANE Select	NP_000351.2:p.Leu339=
NM_199292.3:c.1110G>T	NP_954986.2:p.Leu370=
NM_199293.3:c.1098G>T	NP_954987.2:p.Leu366=