Canonical Allele Identifier: CA379127179

Gene: TH

Linked Data

• gnomAD v4: 11-2167030-T-A
• MyVariant Identifiers: chr11:g.2188260T>A (hg19) ; chr11:g.2167030T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167030T>A , CM000673.2:g.2167030T>A	GRCh38
NC_000011.9:g.2188260T>A , CM000673.1:g.2188260T>A	GRCh37
NC_000011.8:g.2144836T>A	NCBI36
NG_008128.1:g.9776A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.698A>T MANE Select	ENSP00000325951.4:p.Lys233Met
ENST00000324155.8:c.*387A>T	ENSP00000325831.3:n.*387A>T
ENST00000333684.9:c.695+405A>T	ENSP00000328814.6:n.695+405A>T
ENST00000352909.7:c.698A>T	ENSP00000325951.3:p.Lys233Met
ENST00000381168.7:c.*418A>T	ENSP00000370560.3:n.*418A>T
ENST00000381175.5:c.779A>T	ENSP00000370567.1:p.Lys260Met
ENST00000381178.5:c.791A>T	ENSP00000370571.1:p.Lys264Met
ENST00000412076.1:c.135+405A>T
ENST00000416223.5:c.136-262A>T
ENST00000469226.1:n.827A>T
ENST00000479437.5:n.247A>T
NM_000360.3:c.698A>T	NP_000351.2:p.Lys233Met
NM_199292.2:c.791A>T	NP_954986.2:p.Lys264Met
NM_199293.2:c.779A>T	NP_954987.2:p.Lys260Met
XM_011520335.1:c.710A>T	XP_011518637.1:p.Lys237Met
XM_011520335.2:c.710A>T	XP_011518637.1:p.Lys237Met
NM_000360.4:c.698A>T MANE Select	NP_000351.2:p.Lys233Met
NM_199292.3:c.791A>T	NP_954986.2:p.Lys264Met
NM_199293.3:c.779A>T	NP_954987.2:p.Lys260Met