Canonical Allele Identifier: CA379126912

Gene: TH

Linked Data

• dbSNP Id: rs1465348792
• gnomAD v3: 11-2166977-G-A
• gnomAD v4: 11-2166977-G-A
• MyVariant Identifiers: chr11:g.2188207G>A (hg19) ; chr11:g.2166977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166977G>A , CM000673.2:g.2166977G>A	GRCh38
NC_000011.9:g.2188207G>A , CM000673.1:g.2188207G>A	GRCh37
NC_000011.8:g.2144783G>A	NCBI36
NG_008128.1:g.9829C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.751C>T MANE Select	ENSP00000325951.4:p.His251Tyr
ENST00000324155.8:c.*440C>T	ENSP00000325831.3:n.*440C>T
ENST00000333684.9:c.696-428C>T	ENSP00000328814.6:n.696-428C>T
ENST00000352909.7:c.751C>T	ENSP00000325951.3:p.His251Tyr
ENST00000381168.7:c.*471C>T	ENSP00000370560.3:n.*471C>T
ENST00000381175.5:c.832C>T	ENSP00000370567.1:p.His278Tyr
ENST00000381178.5:c.844C>T	ENSP00000370571.1:p.His282Tyr
ENST00000412076.1:c.136-428C>T
ENST00000416223.5:c.136-209C>T
ENST00000469226.1:n.880C>T
ENST00000479437.5:n.300C>T
NM_000360.3:c.751C>T	NP_000351.2:p.His251Tyr
NM_199292.2:c.844C>T	NP_954986.2:p.His282Tyr
NM_199293.2:c.832C>T	NP_954987.2:p.His278Tyr
XM_011520335.1:c.763C>T	XP_011518637.1:p.His255Tyr
XM_011520335.2:c.763C>T	XP_011518637.1:p.His255Tyr
NM_000360.4:c.751C>T MANE Select	NP_000351.2:p.His251Tyr
NM_199292.3:c.844C>T	NP_954986.2:p.His282Tyr
NM_199293.3:c.832C>T	NP_954987.2:p.His278Tyr