Canonical Allele Identifier: CA216284633

Gene: TH

Linked Data

• dbSNP Id: rs555810288
• gnomAD v2: 11-2187733-G-C
• gnomAD v3: 11-2166503-G-C
• gnomAD v4: 11-2166503-G-C
• MyVariant Identifiers: chr11:g.2187733G>C (hg19) ; chr11:g.2166503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166503G>C , CM000673.2:g.2166503G>C	GRCh38
NC_000011.9:g.2187733G>C , CM000673.1:g.2187733G>C	GRCh37
NC_000011.8:g.2144309G>C	NCBI36
NG_008128.1:g.10303C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1024C>G MANE Select	ENSP00000325951.4:p.Arg342Gly
ENST00000324155.8:c.*713C>G	ENSP00000325831.3:n.*713C>G
ENST00000333684.9:c.742C>G	ENSP00000328814.6:p.Arg248Gly
ENST00000352909.7:c.1024C>G	ENSP00000325951.3:p.Arg342Gly
ENST00000381168.7:c.*744C>G	ENSP00000370560.3:n.*744C>G
ENST00000381175.5:c.1105C>G	ENSP00000370567.1:p.Arg369Gly
ENST00000381178.5:c.1117C>G	ENSP00000370571.1:p.Arg373Gly
ENST00000412076.1:c.182C>G
ENST00000416223.5:c.318C>G
ENST00000461172.1:n.189C>G
ENST00000479437.5:n.573C>G
NM_000360.3:c.1024C>G	NP_000351.2:p.Arg342Gly
NM_199292.2:c.1117C>G	NP_954986.2:p.Arg373Gly
NM_199293.2:c.1105C>G	NP_954987.2:p.Arg369Gly
XM_011520335.1:c.1036C>G	XP_011518637.1:p.Arg346Gly
XM_011520335.2:c.1036C>G	XP_011518637.1:p.Arg346Gly
NM_000360.4:c.1024C>G MANE Select	NP_000351.2:p.Arg342Gly
NM_199292.3:c.1117C>G	NP_954986.2:p.Arg373Gly
NM_199293.3:c.1105C>G	NP_954987.2:p.Arg369Gly