Canonical Allele Identifier: CA379127142

Gene: TH

Linked Data

• gnomAD v4: 11-2167025-C-A
• MyVariant Identifiers: chr11:g.2188255C>A (hg19) ; chr11:g.2167025C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167025C>A , CM000673.2:g.2167025C>A	GRCh38
NC_000011.9:g.2188255C>A , CM000673.1:g.2188255C>A	GRCh37
NC_000011.8:g.2144831C>A	NCBI36
NG_008128.1:g.9781G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.703G>T MANE Select	ENSP00000325951.4:p.Val235Phe
ENST00000324155.8:c.*392G>T	ENSP00000325831.3:n.*392G>T
ENST00000333684.9:c.695+410G>T	ENSP00000328814.6:n.695+410G>T
ENST00000352909.7:c.703G>T	ENSP00000325951.3:p.Val235Phe
ENST00000381168.7:c.*423G>T	ENSP00000370560.3:n.*423G>T
ENST00000381175.5:c.784G>T	ENSP00000370567.1:p.Val262Phe
ENST00000381178.5:c.796G>T	ENSP00000370571.1:p.Val266Phe
ENST00000412076.1:c.135+410G>T
ENST00000416223.5:c.136-257G>T
ENST00000469226.1:n.832G>T
ENST00000479437.5:n.252G>T
NM_000360.3:c.703G>T	NP_000351.2:p.Val235Phe
NM_199292.2:c.796G>T	NP_954986.2:p.Val266Phe
NM_199293.2:c.784G>T	NP_954987.2:p.Val262Phe
XM_011520335.1:c.715G>T	XP_011518637.1:p.Val239Phe
XM_011520335.2:c.715G>T	XP_011518637.1:p.Val239Phe
NM_000360.4:c.703G>T MANE Select	NP_000351.2:p.Val235Phe
NM_199292.3:c.796G>T	NP_954986.2:p.Val266Phe
NM_199293.3:c.784G>T	NP_954987.2:p.Val262Phe