Canonical Allele Identifier: CA379126818

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188189A>C (hg19) ; chr11:g.2166959A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166959A>C , CM000673.2:g.2166959A>C	GRCh38
NC_000011.9:g.2188189A>C , CM000673.1:g.2188189A>C	GRCh37
NC_000011.8:g.2144765A>C	NCBI36
NG_008128.1:g.9847T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.769T>G MANE Select	ENSP00000325951.4:p.Leu257Val
ENST00000324155.8:c.*458T>G	ENSP00000325831.3:n.*458T>G
ENST00000333684.9:c.696-410T>G	ENSP00000328814.6:n.696-410T>G
ENST00000352909.7:c.769T>G	ENSP00000325951.3:p.Leu257Val
ENST00000381168.7:c.*489T>G	ENSP00000370560.3:n.*489T>G
ENST00000381175.5:c.850T>G	ENSP00000370567.1:p.Leu284Val
ENST00000381178.5:c.862T>G	ENSP00000370571.1:p.Leu288Val
ENST00000412076.1:c.136-410T>G
ENST00000416223.5:c.136-191T>G
ENST00000469226.1:n.898T>G
ENST00000479437.5:n.318T>G
NM_000360.3:c.769T>G	NP_000351.2:p.Leu257Val
NM_199292.2:c.862T>G	NP_954986.2:p.Leu288Val
NM_199293.2:c.850T>G	NP_954987.2:p.Leu284Val
XM_011520335.1:c.781T>G	XP_011518637.1:p.Leu261Val
XM_011520335.2:c.781T>G	XP_011518637.1:p.Leu261Val
NM_000360.4:c.769T>G MANE Select	NP_000351.2:p.Leu257Val
NM_199292.3:c.862T>G	NP_954986.2:p.Leu288Val
NM_199293.3:c.850T>G	NP_954987.2:p.Leu284Val