Canonical Allele Identifier: CA379126647

Gene: TH

Linked Data

• gnomAD v4: 11-2166925-T-A
• MyVariant Identifiers: chr11:g.2188155T>A (hg19) ; chr11:g.2166925T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166925T>A , CM000673.2:g.2166925T>A	GRCh38
NC_000011.9:g.2188155T>A , CM000673.1:g.2188155T>A	GRCh37
NC_000011.8:g.2144731T>A	NCBI36
NG_008128.1:g.9881A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.803A>T MANE Select	ENSP00000325951.4:p.Asn268Ile
ENST00000324155.8:c.*492A>T	ENSP00000325831.3:n.*492A>T
ENST00000333684.9:c.696-376A>T	ENSP00000328814.6:n.696-376A>T
ENST00000352909.7:c.803A>T	ENSP00000325951.3:p.Asn268Ile
ENST00000381168.7:c.*523A>T	ENSP00000370560.3:n.*523A>T
ENST00000381175.5:c.884A>T	ENSP00000370567.1:p.Asn295Ile
ENST00000381178.5:c.896A>T	ENSP00000370571.1:p.Asn299Ile
ENST00000412076.1:c.136-376A>T
ENST00000416223.5:c.136-157A>T
ENST00000469226.1:n.932A>T
ENST00000479437.5:n.352A>T
NM_000360.3:c.803A>T	NP_000351.2:p.Asn268Ile
NM_199292.2:c.896A>T	NP_954986.2:p.Asn299Ile
NM_199293.2:c.884A>T	NP_954987.2:p.Asn295Ile
XM_011520335.1:c.815A>T	XP_011518637.1:p.Asn272Ile
XM_011520335.2:c.815A>T	XP_011518637.1:p.Asn272Ile
NM_000360.4:c.803A>T MANE Select	NP_000351.2:p.Asn268Ile
NM_199292.3:c.896A>T	NP_954986.2:p.Asn299Ile
NM_199293.3:c.884A>T	NP_954987.2:p.Asn295Ile