Canonical Allele Identifier: CA216285419

Gene: TH

Linked Data

• ClinVar Variation Id: 1487677
• ClinVar RCV Id: RCV002008748
• dbSNP Id: rs372142970
• gnomAD v2: 11-2188179-C-A
• gnomAD v3: 11-2166949-C-A
• gnomAD v4: 11-2166949-C-A
• MyVariant Identifiers: chr11:g.2188179C>A (hg19) ; chr11:g.2166949C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166949C>A , CM000673.2:g.2166949C>A	GRCh38
NC_000011.9:g.2188179C>A , CM000673.1:g.2188179C>A	GRCh37
NC_000011.8:g.2144755C>A	NCBI36
NG_008128.1:g.9857G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.779G>T MANE Select	ENSP00000325951.4:p.Arg260Leu
ENST00000324155.8:c.*468G>T	ENSP00000325831.3:n.*468G>T
ENST00000333684.9:c.696-400G>T	ENSP00000328814.6:n.696-400G>T
ENST00000352909.7:c.779G>T	ENSP00000325951.3:p.Arg260Leu
ENST00000381168.7:c.*499G>T	ENSP00000370560.3:n.*499G>T
ENST00000381175.5:c.860G>T	ENSP00000370567.1:p.Arg287Leu
ENST00000381178.5:c.872G>T	ENSP00000370571.1:p.Arg291Leu
ENST00000412076.1:c.136-400G>T
ENST00000416223.5:c.136-181G>T
ENST00000469226.1:n.908G>T
ENST00000479437.5:n.328G>T
NM_000360.3:c.779G>T	NP_000351.2:p.Arg260Leu
NM_199292.2:c.872G>T	NP_954986.2:p.Arg291Leu
NM_199293.2:c.860G>T	NP_954987.2:p.Arg287Leu
XM_011520335.1:c.791G>T	XP_011518637.1:p.Arg264Leu
XM_011520335.2:c.791G>T	XP_011518637.1:p.Arg264Leu
NM_000360.4:c.779G>T MANE Select	NP_000351.2:p.Arg260Leu
NM_199292.3:c.872G>T	NP_954986.2:p.Arg291Leu
NM_199293.3:c.860G>T	NP_954987.2:p.Arg287Leu