Canonical Allele Identifier: CA379125387

Gene: TH

Linked Data

• gnomAD v4: 11-2165363-G-C
• MyVariant Identifiers: chr11:g.2186593G>C (hg19) ; chr11:g.2165363G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165363G>C , CM000673.2:g.2165363G>C	GRCh38
NC_000011.9:g.2186593G>C , CM000673.1:g.2186593G>C	GRCh37
NC_000011.8:g.2143169G>C	NCBI36
NG_007114.1:g.832C>G
NG_008128.1:g.11443C>G
NG_050578.1:g.847C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1203C>G MANE Select	ENSP00000325951.4:p.His401Gln
ENST00000324155.8:c.*892C>G	ENSP00000325831.3:n.*892C>G
ENST00000333684.9:c.921C>G	ENSP00000328814.6:p.His307Gln
ENST00000352909.7:c.1203C>G	ENSP00000325951.3:p.His401Gln
ENST00000381175.5:c.1284C>G	ENSP00000370567.1:p.His428Gln
ENST00000381178.5:c.1296C>G	ENSP00000370571.1:p.His432Gln
NM_000360.3:c.1203C>G	NP_000351.2:p.His401Gln
NM_199292.2:c.1296C>G	NP_954986.2:p.His432Gln
NM_199293.2:c.1284C>G	NP_954987.2:p.His428Gln
XM_011520335.1:c.1215C>G	XP_011518637.1:p.His405Gln
XM_011520335.2:c.1215C>G	XP_011518637.1:p.His405Gln
NM_000360.4:c.1203C>G MANE Select	NP_000351.2:p.His401Gln
NM_199292.3:c.1296C>G	NP_954986.2:p.His432Gln
NM_199293.3:c.1284C>G	NP_954987.2:p.His428Gln