Canonical Allele Identifier: CA379126982

Gene: TH

Linked Data

• gnomAD v4: 11-2166992-G-A
• MyVariant Identifiers: chr11:g.2188222G>A (hg19) ; chr11:g.2166992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166992G>A , CM000673.2:g.2166992G>A	GRCh38
NC_000011.9:g.2188222G>A , CM000673.1:g.2188222G>A	GRCh37
NC_000011.8:g.2144798G>A	NCBI36
NG_008128.1:g.9814C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.736C>T MANE Select	ENSP00000325951.4:p.His246Tyr
ENST00000324155.8:c.*425C>T	ENSP00000325831.3:n.*425C>T
ENST00000333684.9:c.696-443C>T	ENSP00000328814.6:n.696-443C>T
ENST00000352909.7:c.736C>T	ENSP00000325951.3:p.His246Tyr
ENST00000381168.7:c.*456C>T	ENSP00000370560.3:n.*456C>T
ENST00000381175.5:c.817C>T	ENSP00000370567.1:p.His273Tyr
ENST00000381178.5:c.829C>T	ENSP00000370571.1:p.His277Tyr
ENST00000412076.1:c.136-443C>T
ENST00000416223.5:c.136-224C>T
ENST00000469226.1:n.865C>T
ENST00000479437.5:n.285C>T
NM_000360.3:c.736C>T	NP_000351.2:p.His246Tyr
NM_199292.2:c.829C>T	NP_954986.2:p.His277Tyr
NM_199293.2:c.817C>T	NP_954987.2:p.His273Tyr
XM_011520335.1:c.748C>T	XP_011518637.1:p.His250Tyr
XM_011520335.2:c.748C>T	XP_011518637.1:p.His250Tyr
NM_000360.4:c.736C>T MANE Select	NP_000351.2:p.His246Tyr
NM_199292.3:c.829C>T	NP_954986.2:p.His277Tyr
NM_199293.3:c.817C>T	NP_954987.2:p.His273Tyr