Canonical Allele Identifier: CA379126152

Gene: TH

Linked Data

• gnomAD v4: 11-2166664-G-A
• MyVariant Identifiers: chr11:g.2187894G>A (hg19) ; chr11:g.2166664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166664G>A , CM000673.2:g.2166664G>A	GRCh38
NC_000011.9:g.2187894G>A , CM000673.1:g.2187894G>A	GRCh37
NC_000011.8:g.2144470G>A	NCBI36
NG_008128.1:g.10142C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.946C>T MANE Select	ENSP00000325951.4:p.His316Tyr
ENST00000324155.8:c.*635C>T	ENSP00000325831.3:n.*635C>T
ENST00000333684.9:c.696-115C>T	ENSP00000328814.6:n.696-115C>T
ENST00000352909.7:c.946C>T	ENSP00000325951.3:p.His316Tyr
ENST00000381168.7:c.*666C>T	ENSP00000370560.3:n.*666C>T
ENST00000381175.5:c.1027C>T	ENSP00000370567.1:p.His343Tyr
ENST00000381178.5:c.1039C>T	ENSP00000370571.1:p.His347Tyr
ENST00000412076.1:c.136-115C>T
ENST00000416223.5:c.240C>T
ENST00000461172.1:n.111C>T
ENST00000479437.5:n.495C>T
NM_000360.3:c.946C>T	NP_000351.2:p.His316Tyr
NM_199292.2:c.1039C>T	NP_954986.2:p.His347Tyr
NM_199293.2:c.1027C>T	NP_954987.2:p.His343Tyr
XM_011520335.1:c.958C>T	XP_011518637.1:p.His320Tyr
XM_011520335.2:c.958C>T	XP_011518637.1:p.His320Tyr
NM_000360.4:c.946C>T MANE Select	NP_000351.2:p.His316Tyr
NM_199292.3:c.1039C>T	NP_954986.2:p.His347Tyr
NM_199293.3:c.1027C>T	NP_954987.2:p.His343Tyr