Canonical Allele Identifier: CA379128042

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2189120G>A (hg19) ; chr11:g.2167890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167890G>A , CM000673.2:g.2167890G>A	GRCh38
NC_000011.9:g.2189120G>A , CM000673.1:g.2189120G>A	GRCh37
NC_000011.8:g.2145696G>A	NCBI36
NG_008128.1:g.8916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.620C>T MANE Select	ENSP00000325951.4:p.Ala207Val
ENST00000324155.8:c.*309C>T	ENSP00000325831.3:n.*309C>T
ENST00000333684.9:c.620C>T	ENSP00000328814.6:p.Ala207Val
ENST00000352909.7:c.620C>T	ENSP00000325951.3:p.Ala207Val
ENST00000381168.7:c.*309C>T	ENSP00000370560.3:n.*309C>T
ENST00000381175.5:c.701C>T	ENSP00000370567.1:p.Ala234Val
ENST00000381178.5:c.713C>T	ENSP00000370571.1:p.Ala238Val
ENST00000412076.1:c.60C>T
ENST00000416223.5:c.60C>T
ENST00000469226.1:n.369C>T
NM_000360.3:c.620C>T	NP_000351.2:p.Ala207Val
NM_199292.2:c.713C>T	NP_954986.2:p.Ala238Val
NM_199293.2:c.701C>T	NP_954987.2:p.Ala234Val
XM_011520335.1:c.632C>T	XP_011518637.1:p.Ala211Val
XM_011520335.2:c.632C>T	XP_011518637.1:p.Ala211Val
NM_000360.4:c.620C>T MANE Select	NP_000351.2:p.Ala207Val
NM_199292.3:c.713C>T	NP_954986.2:p.Ala238Val
NM_199293.3:c.701C>T	NP_954987.2:p.Ala234Val