Canonical Allele Identifier: CA5818736

Gene: TH

Linked Data

• ClinVar Variation Id: 1079550
• ClinVar RCV Id: RCV001394873
• dbSNP Id: rs74742646
• ExAC: 11:2190906 G / A
• gnomAD v2: 11-2190906-G-A
• gnomAD v4: 11-2169676-G-A
• MyVariant Identifiers: chr11:g.2190906G>A (hg19) ; chr11:g.2169676G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169676G>A , CM000673.2:g.2169676G>A	GRCh38
NC_000011.9:g.2190906G>A , CM000673.1:g.2190906G>A	GRCh37
NC_000011.8:g.2147482G>A	NCBI36
NG_008128.1:g.7130C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.286C>T MANE Select	ENSP00000325951.4:p.Leu96=
ENST00000324155.8:c.110C>T	ENSP00000325831.3:p.Ala37Val
ENST00000333684.9:c.286C>T	ENSP00000328814.6:p.Leu96=
ENST00000352909.7:c.286C>T	ENSP00000325951.3:p.Leu96=
ENST00000381168.7:c.122C>T	ENSP00000370560.3:p.Ala41Val
ENST00000381175.5:c.367C>T	ENSP00000370567.1:p.Leu123=
ENST00000381178.5:c.379C>T	ENSP00000370571.1:p.Leu127=
NM_000360.3:c.286C>T	NP_000351.2:p.Leu96=
NM_199292.2:c.379C>T	NP_954986.2:p.Leu127=
NM_199293.2:c.367C>T	NP_954987.2:p.Leu123=
XM_011520335.1:c.298C>T	XP_011518637.1:p.Leu100=
XM_011520335.2:c.298C>T	XP_011518637.1:p.Leu100=
NM_000360.4:c.286C>T MANE Select	NP_000351.2:p.Leu96=
NM_199292.3:c.379C>T	NP_954986.2:p.Leu127=
NM_199293.3:c.367C>T	NP_954987.2:p.Leu123=