Canonical Allele Identifier: CA13406200

Gene: TH

Linked Data

• ClinVar Variation Id: 1164243
• ClinVar RCV Id: RCV001509890 ; RCV001712912
• dbSNP Id: rs2070762
• gnomAD v2: 11-2186335-A-G
• gnomAD v3: 11-2165105-A-G
• gnomAD v4: 11-2165105-A-G
• MyVariant Identifiers: chr11:g.2186335A>G (hg19) ; chr11:g.2165105A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165105A>G , CM000673.2:g.2165105A>G	GRCh38
NC_000011.9:g.2186335A>G , CM000673.1:g.2186335A>G	GRCh37
NC_000011.8:g.2142911A>G	NCBI36
NG_007114.1:g.1090T>C
NG_008128.1:g.11701T>C
NG_050578.1:g.1105T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1334+127T>C MANE Select	ENSP00000325951.4:n.1334+127T>C
ENST00000333684.9:c.1052+127T>C	ENSP00000328814.6:n.1052+127T>C
ENST00000352909.7:c.1334+127T>C	ENSP00000325951.3:n.1334+127T>C
ENST00000381175.5:c.1415+127T>C	ENSP00000370567.1:n.1415+127T>C
ENST00000381178.5:c.1427+127T>C	ENSP00000370571.1:n.1427+127T>C
NM_000360.3:c.1334+127T>C	NP_000351.2:n.1334+127T>C
NM_199292.2:c.1427+127T>C	NP_954986.2:n.1427+127T>C
NM_199293.2:c.1415+127T>C	NP_954987.2:n.1415+127T>C
XM_011520335.1:c.1346+127T>C	XP_011518637.1:n.1346+127T>C
XM_011520335.2:c.1346+127T>C	XP_011518637.1:n.1346+127T>C
NM_000360.4:c.1334+127T>C MANE Select	NP_000351.2:n.1334+127T>C
NM_199292.3:c.1427+127T>C	NP_954986.2:n.1427+127T>C
NM_199293.3:c.1415+127T>C	NP_954987.2:n.1415+127T>C