Canonical Allele Identifier: CA379125097

Gene: TH

Linked Data

• ClinVar Variation Id: 2679196
• ClinVar RCV Id: RCV003474111
• MyVariant Identifiers: chr11:g.2186529G>A (hg19) ; chr11:g.2165299G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165299G>A , CM000673.2:g.2165299G>A	GRCh38
NC_000011.9:g.2186529G>A , CM000673.1:g.2186529G>A	GRCh37
NC_000011.8:g.2143105G>A	NCBI36
NG_007114.1:g.896C>T
NG_008128.1:g.11507C>T
NG_050578.1:g.911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1267C>T MANE Select	ENSP00000325951.4:p.Gln423Ter
ENST00000324155.8:c.*956C>T	ENSP00000325831.3:n.*956C>T
ENST00000333684.9:c.985C>T	ENSP00000328814.6:p.Gln329Ter
ENST00000352909.7:c.1267C>T	ENSP00000325951.3:p.Gln423Ter
ENST00000381175.5:c.1348C>T	ENSP00000370567.1:p.Gln450Ter
ENST00000381178.5:c.1360C>T	ENSP00000370571.1:p.Gln454Ter
NM_000360.3:c.1267C>T	NP_000351.2:p.Gln423Ter
NM_199292.2:c.1360C>T	NP_954986.2:p.Gln454Ter
NM_199293.2:c.1348C>T	NP_954987.2:p.Gln450Ter
XM_011520335.1:c.1279C>T	XP_011518637.1:p.Gln427Ter
XM_011520335.2:c.1279C>T	XP_011518637.1:p.Gln427Ter
NM_000360.4:c.1267C>T MANE Select	NP_000351.2:p.Gln423Ter
NM_199292.3:c.1360C>T	NP_954986.2:p.Gln454Ter
NM_199293.3:c.1348C>T	NP_954987.2:p.Gln450Ter