Canonical Allele Identifier: CA5818865

Gene: TH

Linked Data

• ClinVar Variation Id: 806599
• ClinVar RCV Id: RCV000994548 ; RCV001858792
• dbSNP Id: rs746965239
• ExAC: 11:2192920 C / A
• gnomAD v2: 11-2192920-C-A
• gnomAD v3: 11-2171690-C-A
• gnomAD v4: 11-2171690-C-A
• MyVariant Identifiers: chr11:g.2192920C>A (hg19) ; chr11:g.2171690C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171690C>A , CM000673.2:g.2171690C>A	GRCh38
NC_000011.9:g.2192920C>A , CM000673.1:g.2192920C>A	GRCh37
NC_000011.8:g.2149496C>A	NCBI36
NG_008128.1:g.5116G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.90+7G>T MANE Select	ENSP00000325951.4:n.90+7G>T
ENST00000324155.8:c.90+7G>T	ENSP00000325831.3:n.90+7G>T
ENST00000333684.9:c.90+7G>T	ENSP00000328814.6:n.90+7G>T
ENST00000352909.7:c.90+7G>T	ENSP00000325951.3:n.90+7G>T
ENST00000381168.7:c.97G>T	ENSP00000370560.3:p.Gly33Trp
ENST00000381175.5:c.90+7G>T	ENSP00000370567.1:n.90+7G>T
ENST00000381178.5:c.97G>T	ENSP00000370571.1:p.Gly33Trp
NM_000360.3:c.90+7G>T	NP_000351.2:n.90+7G>T
NM_199292.2:c.97G>T	NP_954986.2:p.Gly33Trp
NM_199293.2:c.90+7G>T	NP_954987.2:n.90+7G>T
XM_011520335.1:c.97G>T	XP_011518637.1:p.Gly33Trp
XM_011520335.2:c.97G>T	XP_011518637.1:p.Gly33Trp
NM_000360.4:c.90+7G>T MANE Select	NP_000351.2:n.90+7G>T
NM_199292.3:c.97G>T	NP_954986.2:p.Gly33Trp
NM_199293.3:c.90+7G>T	NP_954987.2:n.90+7G>T