Canonical Allele Identifier: CA379126423

Gene: TH

Linked Data

• dbSNP Id: rs1554923005
• gnomAD v3: 11-2166766-G-T
• gnomAD v4: 11-2166766-G-T
• MyVariant Identifiers: chr11:g.2187996G>T (hg19) ; chr11:g.2166766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166766G>T , CM000673.2:g.2166766G>T	GRCh38
NC_000011.9:g.2187996G>T , CM000673.1:g.2187996G>T	GRCh37
NC_000011.8:g.2144572G>T	NCBI36
NG_008128.1:g.10040C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.844C>A MANE Select	ENSP00000325951.4:p.Arg282Ser
ENST00000324155.8:c.*533C>A	ENSP00000325831.3:n.*533C>A
ENST00000333684.9:c.696-217C>A	ENSP00000328814.6:n.696-217C>A
ENST00000352909.7:c.844C>A	ENSP00000325951.3:p.Arg282Ser
ENST00000381168.7:c.*564C>A	ENSP00000370560.3:n.*564C>A
ENST00000381175.5:c.925C>A	ENSP00000370567.1:p.Arg309Ser
ENST00000381178.5:c.937C>A	ENSP00000370571.1:p.Arg313Ser
ENST00000412076.1:c.136-217C>A
ENST00000416223.5:c.138C>A
ENST00000461172.1:n.9C>A
ENST00000479437.5:n.393C>A
NM_000360.3:c.844C>A	NP_000351.2:p.Arg282Ser
NM_199292.2:c.937C>A	NP_954986.2:p.Arg313Ser
NM_199293.2:c.925C>A	NP_954987.2:p.Arg309Ser
XM_011520335.1:c.856C>A	XP_011518637.1:p.Arg286Ser
XM_011520335.2:c.856C>A	XP_011518637.1:p.Arg286Ser
NM_000360.4:c.844C>A MANE Select	NP_000351.2:p.Arg282Ser
NM_199292.3:c.937C>A	NP_954986.2:p.Arg313Ser
NM_199293.3:c.925C>A	NP_954987.2:p.Arg309Ser