Canonical Allele Identifier: CA5818446

Gene: TH

Linked Data

• dbSNP Id: rs756715404
• ExAC: 11:2187882 G / C
• gnomAD v2: 11-2187882-G-C
• gnomAD v4: 11-2166652-G-C
• MyVariant Identifiers: chr11:g.2187882G>C (hg19) ; chr11:g.2166652G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166652G>C , CM000673.2:g.2166652G>C	GRCh38
NC_000011.9:g.2187882G>C , CM000673.1:g.2187882G>C	GRCh37
NC_000011.8:g.2144458G>C	NCBI36
NG_008128.1:g.10154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.958C>G MANE Select	ENSP00000325951.4:p.Pro320Ala
ENST00000324155.8:c.*647C>G	ENSP00000325831.3:n.*647C>G
ENST00000333684.9:c.696-103C>G	ENSP00000328814.6:n.696-103C>G
ENST00000352909.7:c.958C>G	ENSP00000325951.3:p.Pro320Ala
ENST00000381168.7:c.*678C>G	ENSP00000370560.3:n.*678C>G
ENST00000381175.5:c.1039C>G	ENSP00000370567.1:p.Pro347Ala
ENST00000381178.5:c.1051C>G	ENSP00000370571.1:p.Pro351Ala
ENST00000412076.1:c.136-103C>G
ENST00000416223.5:c.252C>G
ENST00000461172.1:n.123C>G
ENST00000479437.5:n.507C>G
NM_000360.3:c.958C>G	NP_000351.2:p.Pro320Ala
NM_199292.2:c.1051C>G	NP_954986.2:p.Pro351Ala
NM_199293.2:c.1039C>G	NP_954987.2:p.Pro347Ala
XM_011520335.1:c.970C>G	XP_011518637.1:p.Pro324Ala
XM_011520335.2:c.970C>G	XP_011518637.1:p.Pro324Ala
NM_000360.4:c.958C>G MANE Select	NP_000351.2:p.Pro320Ala
NM_199292.3:c.1051C>G	NP_954986.2:p.Pro351Ala
NM_199293.3:c.1039C>G	NP_954987.2:p.Pro347Ala