Canonical Allele Identifier: CA216284956

Gene: TH

Linked Data

• dbSNP Id: rs370710158
• gnomAD v4: 11-2166660-G-A
• COSMIC: COSM6359628
• MyVariant Identifiers: chr11:g.2187890G>A (hg19) ; chr11:g.2166660G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166660G>A , CM000673.2:g.2166660G>A	GRCh38
NC_000011.9:g.2187890G>A , CM000673.1:g.2187890G>A	GRCh37
NC_000011.8:g.2144466G>A	NCBI36
NG_008128.1:g.10146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.950C>T MANE Select	ENSP00000325951.4:p.Ala317Val
ENST00000324155.8:c.*639C>T	ENSP00000325831.3:n.*639C>T
ENST00000333684.9:c.696-111C>T	ENSP00000328814.6:n.696-111C>T
ENST00000352909.7:c.950C>T	ENSP00000325951.3:p.Ala317Val
ENST00000381168.7:c.*670C>T	ENSP00000370560.3:n.*670C>T
ENST00000381175.5:c.1031C>T	ENSP00000370567.1:p.Ala344Val
ENST00000381178.5:c.1043C>T	ENSP00000370571.1:p.Ala348Val
ENST00000412076.1:c.136-111C>T
ENST00000416223.5:c.244C>T
ENST00000461172.1:n.115C>T
ENST00000479437.5:n.499C>T
NM_000360.3:c.950C>T	NP_000351.2:p.Ala317Val
NM_199292.2:c.1043C>T	NP_954986.2:p.Ala348Val
NM_199293.2:c.1031C>T	NP_954987.2:p.Ala344Val
XM_011520335.1:c.962C>T	XP_011518637.1:p.Ala321Val
XM_011520335.2:c.962C>T	XP_011518637.1:p.Ala321Val
NM_000360.4:c.950C>T MANE Select	NP_000351.2:p.Ala317Val
NM_199292.3:c.1043C>T	NP_954986.2:p.Ala348Val
NM_199293.3:c.1031C>T	NP_954987.2:p.Ala344Val