Canonical Allele Identifier: CA597089543

Gene: TH

Linked Data

• dbSNP Id: rs1411853904
• gnomAD v2: 11-2186432-T-TG
• gnomAD v4: 11-2165202-T-TG
• MyVariant Identifiers: chr11:g.2186432_2186433insG (hg19) ; chr11:g.2165202_2165203insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165208dup , CM000673.2:g.2165208dup	GRCh38
NC_000011.9:g.2186438dup , CM000673.1:g.2186438dup	GRCh37
NC_000011.8:g.2143014dup	NCBI36
NG_007114.1:g.992dup
NG_008128.1:g.11603dup
NG_050578.1:g.1007dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1334+29dup MANE Select	ENSP00000325951.4:n.1334+29dup
ENST00000333684.9:c.1052+29dup	ENSP00000328814.6:n.1052+29dup
ENST00000352909.7:c.1334+29dup	ENSP00000325951.3:n.1334+29dup
ENST00000381175.5:c.1415+29dup	ENSP00000370567.1:n.1415+29dup
ENST00000381178.5:c.1427+29dup	ENSP00000370571.1:n.1427+29dup
NM_000360.3:c.1334+29dup	NP_000351.2:n.1334+29dup
NM_199292.2:c.1427+29dup	NP_954986.2:n.1427+29dup
NM_199293.2:c.1415+29dup	NP_954987.2:n.1415+29dup
XM_011520335.1:c.1346+29dup	XP_011518637.1:n.1346+29dup
XM_011520335.2:c.1346+29dup	XP_011518637.1:n.1346+29dup
NM_000360.4:c.1334+29dup MANE Select	NP_000351.2:n.1334+29dup
NM_199292.3:c.1427+29dup	NP_954986.2:n.1427+29dup
NM_199293.3:c.1415+29dup	NP_954987.2:n.1415+29dup