Canonical Allele Identifier: CA379125970

Gene: TH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1024C>A MANE Select	ENSP00000325951.4:p.Arg342Ser
ENST00000324155.8:c.*713C>A	ENSP00000325831.3:n.*713C>A
ENST00000333684.9:c.742C>A	ENSP00000328814.6:p.Arg248Ser
ENST00000352909.7:c.1024C>A	ENSP00000325951.3:p.Arg342Ser
ENST00000381168.7:c.*744C>A	ENSP00000370560.3:n.*744C>A
ENST00000381175.5:c.1105C>A	ENSP00000370567.1:p.Arg369Ser
ENST00000381178.5:c.1117C>A	ENSP00000370571.1:p.Arg373Ser
ENST00000412076.1:c.182C>A
ENST00000416223.5:c.318C>A
ENST00000461172.1:n.189C>A
ENST00000479437.5:n.573C>A
NM_000360.3:c.1024C>A	NP_000351.2:p.Arg342Ser
NM_199292.2:c.1117C>A	NP_954986.2:p.Arg373Ser
NM_199293.2:c.1105C>A	NP_954987.2:p.Arg369Ser
XM_011520335.1:c.1036C>A	XP_011518637.1:p.Arg346Ser
XM_011520335.2:c.1036C>A	XP_011518637.1:p.Arg346Ser
NM_000360.4:c.1024C>A MANE Select	NP_000351.2:p.Arg342Ser
NM_199292.3:c.1117C>A	NP_954986.2:p.Arg373Ser
NM_199293.3:c.1105C>A	NP_954987.2:p.Arg369Ser