Canonical Allele Identifier: CA379125072

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2186525T>A (hg19) ; chr11:g.2165295T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165295T>A , CM000673.2:g.2165295T>A	GRCh38
NC_000011.9:g.2186525T>A , CM000673.1:g.2186525T>A	GRCh37
NC_000011.8:g.2143101T>A	NCBI36
NG_007114.1:g.900A>T
NG_008128.1:g.11511A>T
NG_050578.1:g.915A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1271A>T MANE Select	ENSP00000325951.4:p.Asp424Val
ENST00000324155.8:c.*960A>T	ENSP00000325831.3:n.*960A>T
ENST00000333684.9:c.989A>T	ENSP00000328814.6:p.Asp330Val
ENST00000352909.7:c.1271A>T	ENSP00000325951.3:p.Asp424Val
ENST00000381175.5:c.1352A>T	ENSP00000370567.1:p.Asp451Val
ENST00000381178.5:c.1364A>T	ENSP00000370571.1:p.Asp455Val
NM_000360.3:c.1271A>T	NP_000351.2:p.Asp424Val
NM_199292.2:c.1364A>T	NP_954986.2:p.Asp455Val
NM_199293.2:c.1352A>T	NP_954987.2:p.Asp451Val
XM_011520335.1:c.1283A>T	XP_011518637.1:p.Asp428Val
XM_011520335.2:c.1283A>T	XP_011518637.1:p.Asp428Val
NM_000360.4:c.1271A>T MANE Select	NP_000351.2:p.Asp424Val
NM_199292.3:c.1364A>T	NP_954986.2:p.Asp455Val
NM_199293.3:c.1352A>T	NP_954987.2:p.Asp451Val