Canonical Allele Identifier: CA379126959

Gene: TH

Linked Data

• dbSNP Id: rs768156758
• gnomAD v4: 11-2166988-G-A
• MyVariant Identifiers: chr11:g.2188218G>A (hg19) ; chr11:g.2166988G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166988G>A , CM000673.2:g.2166988G>A	GRCh38
NC_000011.9:g.2188218G>A , CM000673.1:g.2188218G>A	GRCh37
NC_000011.8:g.2144794G>A	NCBI36
NG_008128.1:g.9818C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.740C>T MANE Select	ENSP00000325951.4:p.Ala247Val
ENST00000324155.8:c.*429C>T	ENSP00000325831.3:n.*429C>T
ENST00000333684.9:c.696-439C>T	ENSP00000328814.6:n.696-439C>T
ENST00000352909.7:c.740C>T	ENSP00000325951.3:p.Ala247Val
ENST00000381168.7:c.*460C>T	ENSP00000370560.3:n.*460C>T
ENST00000381175.5:c.821C>T	ENSP00000370567.1:p.Ala274Val
ENST00000381178.5:c.833C>T	ENSP00000370571.1:p.Ala278Val
ENST00000412076.1:c.136-439C>T
ENST00000416223.5:c.136-220C>T
ENST00000469226.1:n.869C>T
ENST00000479437.5:n.289C>T
NM_000360.3:c.740C>T	NP_000351.2:p.Ala247Val
NM_199292.2:c.833C>T	NP_954986.2:p.Ala278Val
NM_199293.2:c.821C>T	NP_954987.2:p.Ala274Val
XM_011520335.1:c.752C>T	XP_011518637.1:p.Ala251Val
XM_011520335.2:c.752C>T	XP_011518637.1:p.Ala251Val
NM_000360.4:c.740C>T MANE Select	NP_000351.2:p.Ala247Val
NM_199292.3:c.833C>T	NP_954986.2:p.Ala278Val
NM_199293.3:c.821C>T	NP_954987.2:p.Ala274Val