Canonical Allele Identifier: CA5818517

Gene: TH

Linked Data

• ClinVar Variation Id: 2048194
• ClinVar RCV Id: RCV002918615
• dbSNP Id: rs768477227
• ExAC: 11:2188276 G / A
• gnomAD v2: 11-2188276-G-A
• gnomAD v3: 11-2167046-G-A
• gnomAD v4: 11-2167046-G-A
• MyVariant Identifiers: chr11:g.2188276G>A (hg19) ; chr11:g.2167046G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167046G>A , CM000673.2:g.2167046G>A	GRCh38
NC_000011.9:g.2188276G>A , CM000673.1:g.2188276G>A	GRCh37
NC_000011.8:g.2144852G>A	NCBI36
NG_008128.1:g.9760C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-14C>T MANE Select	ENSP00000325951.4:n.696-14C>T
ENST00000324155.8:c.*385-14C>T	ENSP00000325831.3:n.*385-14C>T
ENST00000333684.9:c.695+389C>T	ENSP00000328814.6:n.695+389C>T
ENST00000352909.7:c.696-14C>T	ENSP00000325951.3:n.696-14C>T
ENST00000381168.7:c.*416-14C>T	ENSP00000370560.3:n.*416-14C>T
ENST00000381175.5:c.777-14C>T	ENSP00000370567.1:n.777-14C>T
ENST00000381178.5:c.789-14C>T	ENSP00000370571.1:n.789-14C>T
ENST00000412076.1:c.135+389C>T
ENST00000416223.5:c.136-278C>T
ENST00000469226.1:n.825-14C>T
ENST00000479437.5:n.231C>T
NM_000360.3:c.696-14C>T	NP_000351.2:n.696-14C>T
NM_199292.2:c.789-14C>T	NP_954986.2:n.789-14C>T
NM_199293.2:c.777-14C>T	NP_954987.2:n.777-14C>T
XM_011520335.1:c.708-14C>T	XP_011518637.1:n.708-14C>T
XM_011520335.2:c.708-14C>T	XP_011518637.1:n.708-14C>T
NM_000360.4:c.696-14C>T MANE Select	NP_000351.2:n.696-14C>T
NM_199292.3:c.789-14C>T	NP_954986.2:n.789-14C>T
NM_199293.3:c.777-14C>T	NP_954987.2:n.777-14C>T