Canonical Allele Identifier: CA379126126

Gene: TH

Linked Data

• dbSNP Id: rs1167622266
• gnomAD v2: 11-2187879-T-C
• gnomAD v4: 11-2166649-T-C
• MyVariant Identifiers: chr11:g.2187879T>C (hg19) ; chr11:g.2166649T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166649T>C , CM000673.2:g.2166649T>C	GRCh38
NC_000011.9:g.2187879T>C , CM000673.1:g.2187879T>C	GRCh37
NC_000011.8:g.2144455T>C	NCBI36
NG_008128.1:g.10157A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.961A>G MANE Select	ENSP00000325951.4:p.Met321Val
ENST00000324155.8:c.*650A>G	ENSP00000325831.3:n.*650A>G
ENST00000333684.9:c.696-100A>G	ENSP00000328814.6:n.696-100A>G
ENST00000352909.7:c.961A>G	ENSP00000325951.3:p.Met321Val
ENST00000381168.7:c.*681A>G	ENSP00000370560.3:n.*681A>G
ENST00000381175.5:c.1042A>G	ENSP00000370567.1:p.Met348Val
ENST00000381178.5:c.1054A>G	ENSP00000370571.1:p.Met352Val
ENST00000412076.1:c.136-100A>G
ENST00000416223.5:c.255A>G
ENST00000461172.1:n.126A>G
ENST00000479437.5:n.510A>G
NM_000360.3:c.961A>G	NP_000351.2:p.Met321Val
NM_199292.2:c.1054A>G	NP_954986.2:p.Met352Val
NM_199293.2:c.1042A>G	NP_954987.2:p.Met348Val
XM_011520335.1:c.973A>G	XP_011518637.1:p.Met325Val
XM_011520335.2:c.973A>G	XP_011518637.1:p.Met325Val
NM_000360.4:c.961A>G MANE Select	NP_000351.2:p.Met321Val
NM_199292.3:c.1054A>G	NP_954986.2:p.Met352Val
NM_199293.3:c.1042A>G	NP_954987.2:p.Met348Val