Canonical Allele Identifier: CA379126033

Gene: TH

Linked Data

• gnomAD v4: 11-2166533-G-T
• MyVariant Identifiers: chr11:g.2187763G>T (hg19) ; chr11:g.2166533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166533G>T , CM000673.2:g.2166533G>T	GRCh38
NC_000011.9:g.2187763G>T , CM000673.1:g.2187763G>T	GRCh37
NC_000011.8:g.2144339G>T	NCBI36
NG_008128.1:g.10273C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.994C>A MANE Select	ENSP00000325951.4:p.Leu332Met
ENST00000324155.8:c.*683C>A	ENSP00000325831.3:n.*683C>A
ENST00000333684.9:c.712C>A	ENSP00000328814.6:p.Leu238Met
ENST00000352909.7:c.994C>A	ENSP00000325951.3:p.Leu332Met
ENST00000381168.7:c.*714C>A	ENSP00000370560.3:n.*714C>A
ENST00000381175.5:c.1075C>A	ENSP00000370567.1:p.Leu359Met
ENST00000381178.5:c.1087C>A	ENSP00000370571.1:p.Leu363Met
ENST00000412076.1:c.152C>A
ENST00000416223.5:c.288C>A
ENST00000461172.1:n.159C>A
ENST00000479437.5:n.543C>A
NM_000360.3:c.994C>A	NP_000351.2:p.Leu332Met
NM_199292.2:c.1087C>A	NP_954986.2:p.Leu363Met
NM_199293.2:c.1075C>A	NP_954987.2:p.Leu359Met
XM_011520335.1:c.1006C>A	XP_011518637.1:p.Leu336Met
XM_011520335.2:c.1006C>A	XP_011518637.1:p.Leu336Met
NM_000360.4:c.994C>A MANE Select	NP_000351.2:p.Leu332Met
NM_199292.3:c.1087C>A	NP_954986.2:p.Leu363Met
NM_199293.3:c.1075C>A	NP_954987.2:p.Leu359Met