Canonical Allele Identifier: CA379126219

Gene: TH

Linked Data

• dbSNP Id: rs28934580
• gnomAD v4: 11-2166693-C-A
• MyVariant Identifiers: chr11:g.2187923C>A (hg19) ; chr11:g.2166693C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166693C>A , CM000673.2:g.2166693C>A	GRCh38
NC_000011.9:g.2187923C>A , CM000673.1:g.2187923C>A	GRCh37
NC_000011.8:g.2144499C>A	NCBI36
NG_008128.1:g.10113G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.917G>T MANE Select	ENSP00000325951.4:p.Arg306Leu
ENST00000324155.8:c.*606G>T	ENSP00000325831.3:n.*606G>T
ENST00000333684.9:c.696-144G>T	ENSP00000328814.6:n.696-144G>T
ENST00000352909.7:c.917G>T	ENSP00000325951.3:p.Arg306Leu
ENST00000381168.7:c.*637G>T	ENSP00000370560.3:n.*637G>T
ENST00000381175.5:c.998G>T	ENSP00000370567.1:p.Arg333Leu
ENST00000381178.5:c.1010G>T	ENSP00000370571.1:p.Arg337Leu
ENST00000412076.1:c.136-144G>T
ENST00000416223.5:c.211G>T
ENST00000461172.1:n.82G>T
ENST00000479437.5:n.466G>T
NM_000360.3:c.917G>T	NP_000351.2:p.Arg306Leu
NM_199292.2:c.1010G>T	NP_954986.2:p.Arg337Leu
NM_199293.2:c.998G>T	NP_954987.2:p.Arg333Leu
XM_011520335.1:c.929G>T	XP_011518637.1:p.Arg310Leu
XM_011520335.2:c.929G>T	XP_011518637.1:p.Arg310Leu
NM_000360.4:c.917G>T MANE Select	NP_000351.2:p.Arg306Leu
NM_199292.3:c.1010G>T	NP_954986.2:p.Arg337Leu
NM_199293.3:c.998G>T	NP_954987.2:p.Arg333Leu