Canonical Allele Identifier: CA5818578

Gene: TH

Linked Data

• dbSNP Id: rs755668214
• ExAC: 11:2189129 T / C
• gnomAD v2: 11-2189129-T-C
• gnomAD v3: 11-2167899-T-C
• gnomAD v4: 11-2167899-T-C
• MyVariant Identifiers: chr11:g.2189129T>C (hg19) ; chr11:g.2167899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167899T>C , CM000673.2:g.2167899T>C	GRCh38
NC_000011.9:g.2189129T>C , CM000673.1:g.2189129T>C	GRCh37
NC_000011.8:g.2145705T>C	NCBI36
NG_008128.1:g.8907A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.611A>G MANE Select	ENSP00000325951.4:p.Lys204Arg
ENST00000324155.8:c.*300A>G	ENSP00000325831.3:n.*300A>G
ENST00000333684.9:c.611A>G	ENSP00000328814.6:p.Lys204Arg
ENST00000352909.7:c.611A>G	ENSP00000325951.3:p.Lys204Arg
ENST00000381168.7:c.*300A>G	ENSP00000370560.3:n.*300A>G
ENST00000381175.5:c.692A>G	ENSP00000370567.1:p.Lys231Arg
ENST00000381178.5:c.704A>G	ENSP00000370571.1:p.Lys235Arg
ENST00000412076.1:c.51A>G
ENST00000416223.5:c.51A>G
ENST00000469226.1:n.360A>G
NM_000360.3:c.611A>G	NP_000351.2:p.Lys204Arg
NM_199292.2:c.704A>G	NP_954986.2:p.Lys235Arg
NM_199293.2:c.692A>G	NP_954987.2:p.Lys231Arg
XM_011520335.1:c.623A>G	XP_011518637.1:p.Lys208Arg
XM_011520335.2:c.623A>G	XP_011518637.1:p.Lys208Arg
NM_000360.4:c.611A>G MANE Select	NP_000351.2:p.Lys204Arg
NM_199292.3:c.704A>G	NP_954986.2:p.Lys235Arg
NM_199293.3:c.692A>G	NP_954987.2:p.Lys231Arg