Canonical Allele Identifier: CA379126427

Gene: TH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.844C>T MANE Select	ENSP00000325951.4:p.Arg282Cys
ENST00000324155.8:c.*533C>T	ENSP00000325831.3:n.*533C>T
ENST00000333684.9:c.696-217C>T	ENSP00000328814.6:n.696-217C>T
ENST00000352909.7:c.844C>T	ENSP00000325951.3:p.Arg282Cys
ENST00000381168.7:c.*564C>T	ENSP00000370560.3:n.*564C>T
ENST00000381175.5:c.925C>T	ENSP00000370567.1:p.Arg309Cys
ENST00000381178.5:c.937C>T	ENSP00000370571.1:p.Arg313Cys
ENST00000412076.1:c.136-217C>T
ENST00000416223.5:c.138C>T
ENST00000461172.1:n.9C>T
ENST00000479437.5:n.393C>T
NM_000360.3:c.844C>T	NP_000351.2:p.Arg282Cys
NM_199292.2:c.937C>T	NP_954986.2:p.Arg313Cys
NM_199293.2:c.925C>T	NP_954987.2:p.Arg309Cys
XM_011520335.1:c.856C>T	XP_011518637.1:p.Arg286Cys
XM_011520335.2:c.856C>T	XP_011518637.1:p.Arg286Cys
NM_000360.4:c.844C>T MANE Select	NP_000351.2:p.Arg282Cys
NM_199292.3:c.937C>T	NP_954986.2:p.Arg313Cys
NM_199293.3:c.925C>T	NP_954987.2:p.Arg309Cys