Canonical Allele Identifier: CA379127150

Gene: TH

Linked Data

• gnomAD v3: 11-2167025-C-T
• gnomAD v4: 11-2167025-C-T
• MyVariant Identifiers: chr11:g.2188255C>T (hg19) ; chr11:g.2167025C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.703G>A MANE Select	ENSP00000325951.4:p.Val235Ile
ENST00000324155.8:c.*392G>A	ENSP00000325831.3:n.*392G>A
ENST00000333684.9:c.695+410G>A	ENSP00000328814.6:n.695+410G>A
ENST00000352909.7:c.703G>A	ENSP00000325951.3:p.Val235Ile
ENST00000381168.7:c.*423G>A	ENSP00000370560.3:n.*423G>A
ENST00000381175.5:c.784G>A	ENSP00000370567.1:p.Val262Ile
ENST00000381178.5:c.796G>A	ENSP00000370571.1:p.Val266Ile
ENST00000412076.1:c.135+410G>A
ENST00000416223.5:c.136-257G>A
ENST00000469226.1:n.832G>A
ENST00000479437.5:n.252G>A
NM_000360.3:c.703G>A	NP_000351.2:p.Val235Ile
NM_199292.2:c.796G>A	NP_954986.2:p.Val266Ile
NM_199293.2:c.784G>A	NP_954987.2:p.Val262Ile
XM_011520335.1:c.715G>A	XP_011518637.1:p.Val239Ile
XM_011520335.2:c.715G>A	XP_011518637.1:p.Val239Ile
NM_000360.4:c.703G>A MANE Select	NP_000351.2:p.Val235Ile
NM_199292.3:c.796G>A	NP_954986.2:p.Val266Ile
NM_199293.3:c.784G>A	NP_954987.2:p.Val262Ile