Canonical Allele Identifier: CA5818516

Gene: TH

Linked Data

• dbSNP Id: rs749227608
• ExAC: 11:2188270 C / G
• gnomAD v2: 11-2188270-C-G
• gnomAD v3: 11-2167040-C-G
• gnomAD v4: 11-2167040-C-G
• MyVariant Identifiers: chr11:g.2188270C>G (hg19) ; chr11:g.2167040C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167040C>G , CM000673.2:g.2167040C>G	GRCh38
NC_000011.9:g.2188270C>G , CM000673.1:g.2188270C>G	GRCh37
NC_000011.8:g.2144846C>G	NCBI36
NG_008128.1:g.9766G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-8G>C MANE Select	ENSP00000325951.4:n.696-8G>C
ENST00000324155.8:c.*385-8G>C	ENSP00000325831.3:n.*385-8G>C
ENST00000333684.9:c.695+395G>C	ENSP00000328814.6:n.695+395G>C
ENST00000352909.7:c.696-8G>C	ENSP00000325951.3:n.696-8G>C
ENST00000381168.7:c.*416-8G>C	ENSP00000370560.3:n.*416-8G>C
ENST00000381175.5:c.777-8G>C	ENSP00000370567.1:n.777-8G>C
ENST00000381178.5:c.789-8G>C	ENSP00000370571.1:n.789-8G>C
ENST00000412076.1:c.135+395G>C
ENST00000416223.5:c.136-272G>C
ENST00000469226.1:n.825-8G>C
ENST00000479437.5:n.237G>C
NM_000360.3:c.696-8G>C	NP_000351.2:n.696-8G>C
NM_199292.2:c.789-8G>C	NP_954986.2:n.789-8G>C
NM_199293.2:c.777-8G>C	NP_954987.2:n.777-8G>C
XM_011520335.1:c.708-8G>C	XP_011518637.1:n.708-8G>C
XM_011520335.2:c.708-8G>C	XP_011518637.1:n.708-8G>C
NM_000360.4:c.696-8G>C MANE Select	NP_000351.2:n.696-8G>C
NM_199292.3:c.789-8G>C	NP_954986.2:n.789-8G>C
NM_199293.3:c.777-8G>C	NP_954987.2:n.777-8G>C