Canonical Allele Identifier: CA379126181

Gene: TH

Linked Data

• ClinVar Variation Id: 2679200
• ClinVar RCV Id: RCV003474115
• dbSNP Id: rs1337159250
• gnomAD v2: 11-2187906-G-A
• gnomAD v4: 11-2166676-G-A
• MyVariant Identifiers: chr11:g.2187906G>A (hg19) ; chr11:g.2166676G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166676G>A , CM000673.2:g.2166676G>A	GRCh38
NC_000011.9:g.2187906G>A , CM000673.1:g.2187906G>A	GRCh37
NC_000011.8:g.2144482G>A	NCBI36
NG_008128.1:g.10130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.934C>T MANE Select	ENSP00000325951.4:p.Gln312Ter
ENST00000324155.8:c.*623C>T	ENSP00000325831.3:n.*623C>T
ENST00000333684.9:c.696-127C>T	ENSP00000328814.6:n.696-127C>T
ENST00000352909.7:c.934C>T	ENSP00000325951.3:p.Gln312Ter
ENST00000381168.7:c.*654C>T	ENSP00000370560.3:n.*654C>T
ENST00000381175.5:c.1015C>T	ENSP00000370567.1:p.Gln339Ter
ENST00000381178.5:c.1027C>T	ENSP00000370571.1:p.Gln343Ter
ENST00000412076.1:c.136-127C>T
ENST00000416223.5:c.228C>T
ENST00000461172.1:n.99C>T
ENST00000479437.5:n.483C>T
NM_000360.3:c.934C>T	NP_000351.2:p.Gln312Ter
NM_199292.2:c.1027C>T	NP_954986.2:p.Gln343Ter
NM_199293.2:c.1015C>T	NP_954987.2:p.Gln339Ter
XM_011520335.1:c.946C>T	XP_011518637.1:p.Gln316Ter
XM_011520335.2:c.946C>T	XP_011518637.1:p.Gln316Ter
NM_000360.4:c.934C>T MANE Select	NP_000351.2:p.Gln312Ter
NM_199292.3:c.1027C>T	NP_954986.2:p.Gln343Ter
NM_199293.3:c.1015C>T	NP_954987.2:p.Gln339Ter