Canonical Allele Identifier: CA379125036

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2186514G>T (hg19) ; chr11:g.2165284G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165284G>T , CM000673.2:g.2165284G>T	GRCh38
NC_000011.9:g.2186514G>T , CM000673.1:g.2186514G>T	GRCh37
NC_000011.8:g.2143090G>T	NCBI36
NG_007114.1:g.911C>A
NG_008128.1:g.11522C>A
NG_050578.1:g.926C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1282C>A MANE Select	ENSP00000325951.4:p.Gln428Lys
ENST00000333684.9:c.1000C>A	ENSP00000328814.6:p.Gln334Lys
ENST00000352909.7:c.1282C>A	ENSP00000325951.3:p.Gln428Lys
ENST00000381175.5:c.1363C>A	ENSP00000370567.1:p.Gln455Lys
ENST00000381178.5:c.1375C>A	ENSP00000370571.1:p.Gln459Lys
NM_000360.3:c.1282C>A	NP_000351.2:p.Gln428Lys
NM_199292.2:c.1375C>A	NP_954986.2:p.Gln459Lys
NM_199293.2:c.1363C>A	NP_954987.2:p.Gln455Lys
XM_011520335.1:c.1294C>A	XP_011518637.1:p.Gln432Lys
XM_011520335.2:c.1294C>A	XP_011518637.1:p.Gln432Lys
NM_000360.4:c.1282C>A MANE Select	NP_000351.2:p.Gln428Lys
NM_199292.3:c.1375C>A	NP_954986.2:p.Gln459Lys
NM_199293.3:c.1363C>A	NP_954987.2:p.Gln455Lys