Canonical Allele Identifier: CA379126232

Gene: TH

Linked Data

• gnomAD v4: 11-2166699-G-A
• MyVariant Identifiers: chr11:g.2187929G>A (hg19) ; chr11:g.2166699G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166699G>A , CM000673.2:g.2166699G>A	GRCh38
NC_000011.9:g.2187929G>A , CM000673.1:g.2187929G>A	GRCh37
NC_000011.8:g.2144505G>A	NCBI36
NG_008128.1:g.10107C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.911C>T MANE Select	ENSP00000325951.4:p.Ala304Val
ENST00000324155.8:c.*600C>T	ENSP00000325831.3:n.*600C>T
ENST00000333684.9:c.696-150C>T	ENSP00000328814.6:n.696-150C>T
ENST00000352909.7:c.911C>T	ENSP00000325951.3:p.Ala304Val
ENST00000381168.7:c.*631C>T	ENSP00000370560.3:n.*631C>T
ENST00000381175.5:c.992C>T	ENSP00000370567.1:p.Ala331Val
ENST00000381178.5:c.1004C>T	ENSP00000370571.1:p.Ala335Val
ENST00000412076.1:c.136-150C>T
ENST00000416223.5:c.205C>T
ENST00000461172.1:n.76C>T
ENST00000479437.5:n.460C>T
NM_000360.3:c.911C>T	NP_000351.2:p.Ala304Val
NM_199292.2:c.1004C>T	NP_954986.2:p.Ala335Val
NM_199293.2:c.992C>T	NP_954987.2:p.Ala331Val
XM_011520335.1:c.923C>T	XP_011518637.1:p.Ala308Val
XM_011520335.2:c.923C>T	XP_011518637.1:p.Ala308Val
NM_000360.4:c.911C>T MANE Select	NP_000351.2:p.Ala304Val
NM_199292.3:c.1004C>T	NP_954986.2:p.Ala335Val
NM_199293.3:c.992C>T	NP_954987.2:p.Ala331Val