Canonical Allele Identifier: CA472414101

Gene: TH

Linked Data

• ClinVar Variation Id: 2040585
• ClinVar RCV Id: RCV002912610
• dbSNP Id: rs1308133833
• gnomAD v2: 11-2187931-C-G
• gnomAD v3: 11-2166701-C-G
• gnomAD v4: 11-2166701-C-G
• MyVariant Identifiers: chr11:g.2187931C>G (hg19) ; chr11:g.2166701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166701C>G , CM000673.2:g.2166701C>G	GRCh38
NC_000011.9:g.2187931C>G , CM000673.1:g.2187931C>G	GRCh37
NC_000011.8:g.2144507C>G	NCBI36
NG_008128.1:g.10105G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.909G>C MANE Select	ENSP00000325951.4:p.Leu303=
ENST00000324155.8:c.*598G>C	ENSP00000325831.3:n.*598G>C
ENST00000333684.9:c.696-152G>C	ENSP00000328814.6:n.696-152G>C
ENST00000352909.7:c.909G>C	ENSP00000325951.3:p.Leu303=
ENST00000381168.7:c.*629G>C	ENSP00000370560.3:n.*629G>C
ENST00000381175.5:c.990G>C	ENSP00000370567.1:p.Leu330=
ENST00000381178.5:c.1002G>C	ENSP00000370571.1:p.Leu334=
ENST00000412076.1:c.136-152G>C
ENST00000416223.5:c.203G>C
ENST00000461172.1:n.74G>C
ENST00000479437.5:n.458G>C
NM_000360.3:c.909G>C	NP_000351.2:p.Leu303=
NM_199292.2:c.1002G>C	NP_954986.2:p.Leu334=
NM_199293.2:c.990G>C	NP_954987.2:p.Leu330=
XM_011520335.1:c.921G>C	XP_011518637.1:p.Leu307=
XM_011520335.2:c.921G>C	XP_011518637.1:p.Leu307=
NM_000360.4:c.909G>C MANE Select	NP_000351.2:p.Leu303=
NM_199292.3:c.1002G>C	NP_954986.2:p.Leu334=
NM_199293.3:c.990G>C	NP_954987.2:p.Leu330=