Canonical Allele Identifier: CA5818489

Gene: TH

Linked Data

• ClinVar Variation Id: 551155
• ClinVar RCV Id: RCV000666139 ; RCV001756124
• dbSNP Id: rs755536257
• ExAC: 11:2188171 C / G
• gnomAD v2: 11-2188171-C-G
• gnomAD v4: 11-2166941-C-G
• MyVariant Identifiers: chr11:g.2188171C>G (hg19) ; chr11:g.2166941C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166941C>G , CM000673.2:g.2166941C>G	GRCh38
NC_000011.9:g.2188171C>G , CM000673.1:g.2188171C>G	GRCh37
NC_000011.8:g.2144747C>G	NCBI36
NG_008128.1:g.9865G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.787G>C MANE Select	ENSP00000325951.4:p.Gly263Arg
ENST00000324155.8:c.*476G>C	ENSP00000325831.3:n.*476G>C
ENST00000333684.9:c.696-392G>C	ENSP00000328814.6:n.696-392G>C
ENST00000352909.7:c.787G>C	ENSP00000325951.3:p.Gly263Arg
ENST00000381168.7:c.*507G>C	ENSP00000370560.3:n.*507G>C
ENST00000381175.5:c.868G>C	ENSP00000370567.1:p.Gly290Arg
ENST00000381178.5:c.880G>C	ENSP00000370571.1:p.Gly294Arg
ENST00000412076.1:c.136-392G>C
ENST00000416223.5:c.136-173G>C
ENST00000469226.1:n.916G>C
ENST00000479437.5:n.336G>C
NM_000360.3:c.787G>C	NP_000351.2:p.Gly263Arg
NM_199292.2:c.880G>C	NP_954986.2:p.Gly294Arg
NM_199293.2:c.868G>C	NP_954987.2:p.Gly290Arg
XM_011520335.1:c.799G>C	XP_011518637.1:p.Gly267Arg
XM_011520335.2:c.799G>C	XP_011518637.1:p.Gly267Arg
NM_000360.4:c.787G>C MANE Select	NP_000351.2:p.Gly263Arg
NM_199292.3:c.880G>C	NP_954986.2:p.Gly294Arg
NM_199293.3:c.868G>C	NP_954987.2:p.Gly290Arg