Canonical Allele Identifier: CA379124810

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2186462C>T (hg19) ; chr11:g.2165232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165232C>T , CM000673.2:g.2165232C>T	GRCh38
NC_000011.9:g.2186462C>T , CM000673.1:g.2186462C>T	GRCh37
NC_000011.8:g.2143038C>T	NCBI36
NG_007114.1:g.963G>A
NG_008128.1:g.11574G>A
NG_050578.1:g.978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1334G>A MANE Select	ENSP00000325951.4:p.Arg445Lys
ENST00000333684.9:c.1052G>A	ENSP00000328814.6:p.Arg351Lys
ENST00000352909.7:c.1334G>A	ENSP00000325951.3:p.Arg445Lys
ENST00000381175.5:c.1415G>A	ENSP00000370567.1:p.Arg472Lys
ENST00000381178.5:c.1427G>A	ENSP00000370571.1:p.Arg476Lys
NM_000360.3:c.1334G>A	NP_000351.2:p.Arg445Lys
NM_199292.2:c.1427G>A	NP_954986.2:p.Arg476Lys
NM_199293.2:c.1415G>A	NP_954987.2:p.Arg472Lys
XM_011520335.1:c.1346G>A	XP_011518637.1:p.Arg449Lys
XM_011520335.2:c.1346G>A	XP_011518637.1:p.Arg449Lys
NM_000360.4:c.1334G>A MANE Select	NP_000351.2:p.Arg445Lys
NM_199292.3:c.1427G>A	NP_954986.2:p.Arg476Lys
NM_199293.3:c.1415G>A	NP_954987.2:p.Arg472Lys