Canonical Allele Identifier: CA674605062

Gene: TH

Linked Data

• dbSNP Id: rs1164254140
• gnomAD v3: 11-2171785-A-AT
• gnomAD v4: 11-2171785-A-AT
• MyVariant Identifiers: chr11:g.2193015_2193016insT (hg19) ; chr11:g.2171785_2171786insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171786dup , CM000673.2:g.2171786dup	GRCh38
NC_000011.9:g.2193016dup , CM000673.1:g.2193016dup	GRCh37
NC_000011.8:g.2149592dup	NCBI36
NG_008128.1:g.5020dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1dup MANE Select	ENSP00000325951.4:p.Met1AsnfsTer20
ENST00000324155.8:c.1dup	ENSP00000325831.3:p.Met1AsnfsTer20
ENST00000333684.9:c.1dup	ENSP00000328814.6:p.Met1AsnfsTer20
ENST00000352909.7:c.1dup	ENSP00000325951.3:p.Met1AsnfsTer20
ENST00000381168.7:c.1dup	ENSP00000370560.3:p.Met1AsnfsTer20
ENST00000381175.5:c.1dup	ENSP00000370567.1:p.Met1AsnfsTer20
ENST00000381178.5:c.1dup	ENSP00000370571.1:p.Met1AsnfsTer20
NM_000360.3:c.1dup	NP_000351.2:p.Met1AsnfsTer20
NM_199292.2:c.1dup	NP_954986.2:p.Met1AsnfsTer20
NM_199293.2:c.1dup	NP_954987.2:p.Met1AsnfsTer20
XM_011520335.1:c.1dup	XP_011518637.1:p.Met1AsnfsTer20
XM_011520335.2:c.1dup	XP_011518637.1:p.Met1AsnfsTer20
NM_000360.4:c.1dup MANE Select	NP_000351.2:p.Met1AsnfsTer20
NM_199292.3:c.1dup	NP_954986.2:p.Met1AsnfsTer20
NM_199293.3:c.1dup	NP_954987.2:p.Met1AsnfsTer20