Canonical Allele Identifier: CA472414079

Gene: TH

Linked Data

• gnomAD v4: 11-2166689-C-T
• MyVariant Identifiers: chr11:g.2187919C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166689C>T , CM000673.2:g.2166689C>T	GRCh38
NC_000011.9:g.2187919C>T , CM000673.1:g.2187919C>T	GRCh37
NC_000011.8:g.2144495C>T	NCBI36
NG_008128.1:g.10117G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.921G>A MANE Select	ENSP00000325951.4:p.Val307=
ENST00000324155.8:c.*610G>A	ENSP00000325831.3:n.*610G>A
ENST00000333684.9:c.696-140G>A	ENSP00000328814.6:n.696-140G>A
ENST00000352909.7:c.921G>A	ENSP00000325951.3:p.Val307=
ENST00000381168.7:c.*641G>A	ENSP00000370560.3:n.*641G>A
ENST00000381175.5:c.1002G>A	ENSP00000370567.1:p.Val334=
ENST00000381178.5:c.1014G>A	ENSP00000370571.1:p.Val338=
ENST00000412076.1:c.136-140G>A
ENST00000416223.5:c.215G>A
ENST00000461172.1:n.86G>A
ENST00000479437.5:n.470G>A
NM_000360.3:c.921G>A	NP_000351.2:p.Val307=
NM_199292.2:c.1014G>A	NP_954986.2:p.Val338=
NM_199293.2:c.1002G>A	NP_954987.2:p.Val334=
XM_011520335.1:c.933G>A	XP_011518637.1:p.Val311=
XM_011520335.2:c.933G>A	XP_011518637.1:p.Val311=
NM_000360.4:c.921G>A MANE Select	NP_000351.2:p.Val307=
NM_199292.3:c.1014G>A	NP_954986.2:p.Val338=
NM_199293.3:c.1002G>A	NP_954987.2:p.Val334=