Canonical Allele Identifier: CA379125989

Gene: TH

Linked Data

• gnomAD v4: 11-2166512-G-T
• MyVariant Identifiers: chr11:g.2187742G>T (hg19) ; chr11:g.2166512G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166512G>T , CM000673.2:g.2166512G>T	GRCh38
NC_000011.9:g.2187742G>T , CM000673.1:g.2187742G>T	GRCh37
NC_000011.8:g.2144318G>T	NCBI36
NG_008128.1:g.10294C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1015C>A MANE Select	ENSP00000325951.4:p.Leu339Met
ENST00000324155.8:c.*704C>A	ENSP00000325831.3:n.*704C>A
ENST00000333684.9:c.733C>A	ENSP00000328814.6:p.Leu245Met
ENST00000352909.7:c.1015C>A	ENSP00000325951.3:p.Leu339Met
ENST00000381168.7:c.*735C>A	ENSP00000370560.3:n.*735C>A
ENST00000381175.5:c.1096C>A	ENSP00000370567.1:p.Leu366Met
ENST00000381178.5:c.1108C>A	ENSP00000370571.1:p.Leu370Met
ENST00000412076.1:c.173C>A
ENST00000416223.5:c.309C>A
ENST00000461172.1:n.180C>A
ENST00000479437.5:n.564C>A
NM_000360.3:c.1015C>A	NP_000351.2:p.Leu339Met
NM_199292.2:c.1108C>A	NP_954986.2:p.Leu370Met
NM_199293.2:c.1096C>A	NP_954987.2:p.Leu366Met
XM_011520335.1:c.1027C>A	XP_011518637.1:p.Leu343Met
XM_011520335.2:c.1027C>A	XP_011518637.1:p.Leu343Met
NM_000360.4:c.1015C>A MANE Select	NP_000351.2:p.Leu339Met
NM_199292.3:c.1108C>A	NP_954986.2:p.Leu370Met
NM_199293.3:c.1096C>A	NP_954987.2:p.Leu366Met