Canonical Allele Identifier: CA5818409

Gene: TH

Linked Data

• ClinVar Variation Id: 1347764
• ClinVar RCV Id: RCV002050674
• dbSNP Id: rs770006796
• ExAC: 11:2187719 C / G
• gnomAD v2: 11-2187719-C-G
• gnomAD v3: 11-2166489-C-G
• gnomAD v4: 11-2166489-C-G
• MyVariant Identifiers: chr11:g.2187719C>G (hg19) ; chr11:g.2166489C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166489C>G , CM000673.2:g.2166489C>G	GRCh38
NC_000011.9:g.2187719C>G , CM000673.1:g.2187719C>G	GRCh37
NC_000011.8:g.2144295C>G	NCBI36
NG_008128.1:g.10317G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1038G>C MANE Select	ENSP00000325951.4:p.Gln346His
ENST00000324155.8:c.*727G>C	ENSP00000325831.3:n.*727G>C
ENST00000333684.9:c.756G>C	ENSP00000328814.6:p.Gln252His
ENST00000352909.7:c.1038G>C	ENSP00000325951.3:p.Gln346His
ENST00000381168.7:c.*758G>C	ENSP00000370560.3:n.*758G>C
ENST00000381175.5:c.1119G>C	ENSP00000370567.1:p.Gln373His
ENST00000381178.5:c.1131G>C	ENSP00000370571.1:p.Gln377His
ENST00000412076.1:c.196G>C
ENST00000416223.5:c.332G>C
ENST00000461172.1:n.203G>C
ENST00000479437.5:n.587G>C
NM_000360.3:c.1038G>C	NP_000351.2:p.Gln346His
NM_199292.2:c.1131G>C	NP_954986.2:p.Gln377His
NM_199293.2:c.1119G>C	NP_954987.2:p.Gln373His
XM_011520335.1:c.1050G>C	XP_011518637.1:p.Gln350His
XM_011520335.2:c.1050G>C	XP_011518637.1:p.Gln350His
NM_000360.4:c.1038G>C MANE Select	NP_000351.2:p.Gln346His
NM_199292.3:c.1131G>C	NP_954986.2:p.Gln377His
NM_199293.3:c.1119G>C	NP_954987.2:p.Gln373His