Canonical Allele Identifier: CA472414120

Gene: TH

Linked Data

• dbSNP Id: rs1323498053
• gnomAD v3: 11-2166712-G-A
• gnomAD v4: 11-2166712-G-A
• MyVariant Identifiers: chr11:g.2187942G>A (hg19) ; chr11:g.2166712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166712G>A , CM000673.2:g.2166712G>A	GRCh38
NC_000011.9:g.2187942G>A , CM000673.1:g.2187942G>A	GRCh37
NC_000011.8:g.2144518G>A	NCBI36
NG_008128.1:g.10094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.898C>T MANE Select	ENSP00000325951.4:p.Leu300=
ENST00000324155.8:c.*587C>T	ENSP00000325831.3:n.*587C>T
ENST00000333684.9:c.696-163C>T	ENSP00000328814.6:n.696-163C>T
ENST00000352909.7:c.898C>T	ENSP00000325951.3:p.Leu300=
ENST00000381168.7:c.*618C>T	ENSP00000370560.3:n.*618C>T
ENST00000381175.5:c.979C>T	ENSP00000370567.1:p.Leu327=
ENST00000381178.5:c.991C>T	ENSP00000370571.1:p.Leu331=
ENST00000412076.1:c.136-163C>T
ENST00000416223.5:c.192C>T
ENST00000461172.1:n.63C>T
ENST00000479437.5:n.447C>T
NM_000360.3:c.898C>T	NP_000351.2:p.Leu300=
NM_199292.2:c.991C>T	NP_954986.2:p.Leu331=
NM_199293.2:c.979C>T	NP_954987.2:p.Leu327=
XM_011520335.1:c.910C>T	XP_011518637.1:p.Leu304=
XM_011520335.2:c.910C>T	XP_011518637.1:p.Leu304=
NM_000360.4:c.898C>T MANE Select	NP_000351.2:p.Leu300=
NM_199292.3:c.991C>T	NP_954986.2:p.Leu331=
NM_199293.3:c.979C>T	NP_954987.2:p.Leu327=