Canonical Allele Identifier: CA379125268

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2186562A>C (hg19) ; chr11:g.2165332A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165332A>C , CM000673.2:g.2165332A>C	GRCh38
NC_000011.9:g.2186562A>C , CM000673.1:g.2186562A>C	GRCh37
NC_000011.8:g.2143138A>C	NCBI36
NG_007114.1:g.863T>G
NG_008128.1:g.11474T>G
NG_050578.1:g.878T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1234T>G MANE Select	ENSP00000325951.4:p.Phe412Val
ENST00000324155.8:c.*923T>G	ENSP00000325831.3:n.*923T>G
ENST00000333684.9:c.952T>G	ENSP00000328814.6:p.Phe318Val
ENST00000352909.7:c.1234T>G	ENSP00000325951.3:p.Phe412Val
ENST00000381175.5:c.1315T>G	ENSP00000370567.1:p.Phe439Val
ENST00000381178.5:c.1327T>G	ENSP00000370571.1:p.Phe443Val
NM_000360.3:c.1234T>G	NP_000351.2:p.Phe412Val
NM_199292.2:c.1327T>G	NP_954986.2:p.Phe443Val
NM_199293.2:c.1315T>G	NP_954987.2:p.Phe439Val
XM_011520335.1:c.1246T>G	XP_011518637.1:p.Phe416Val
XM_011520335.2:c.1246T>G	XP_011518637.1:p.Phe416Val
NM_000360.4:c.1234T>G MANE Select	NP_000351.2:p.Phe412Val
NM_199292.3:c.1327T>G	NP_954986.2:p.Phe443Val
NM_199293.3:c.1315T>G	NP_954987.2:p.Phe439Val