Canonical Allele Identifier: CA5818730

Gene: TH

Linked Data

• ClinVar Variation Id: 586831
• ClinVar RCV Id: RCV000713851 ; RCV001108641
• dbSNP Id: rs372077622
• ExAC: 11:2190888 C / A
• gnomAD v2: 11-2190888-C-A
• gnomAD v3: 11-2169658-C-A
• gnomAD v4: 11-2169658-C-A
• MyVariant Identifiers: chr11:g.2190888C>A (hg19) ; chr11:g.2169658C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169658C>A , CM000673.2:g.2169658C>A	GRCh38
NC_000011.9:g.2190888C>A , CM000673.1:g.2190888C>A	GRCh37
NC_000011.8:g.2147464C>A	NCBI36
NG_008128.1:g.7148G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.304G>T MANE Select	ENSP00000325951.4:p.Val102Leu
ENST00000324155.8:c.128G>T	ENSP00000325831.3:p.Gly43Val
ENST00000333684.9:c.304G>T	ENSP00000328814.6:p.Val102Leu
ENST00000352909.7:c.304G>T	ENSP00000325951.3:p.Val102Leu
ENST00000381168.7:c.140G>T	ENSP00000370560.3:p.Gly47Val
ENST00000381175.5:c.385G>T	ENSP00000370567.1:p.Val129Leu
ENST00000381178.5:c.397G>T	ENSP00000370571.1:p.Val133Leu
NM_000360.3:c.304G>T	NP_000351.2:p.Val102Leu
NM_199292.2:c.397G>T	NP_954986.2:p.Val133Leu
NM_199293.2:c.385G>T	NP_954987.2:p.Val129Leu
XM_011520335.1:c.316G>T	XP_011518637.1:p.Val106Leu
XM_011520335.2:c.316G>T	XP_011518637.1:p.Val106Leu
NM_000360.4:c.304G>T MANE Select	NP_000351.2:p.Val102Leu
NM_199292.3:c.397G>T	NP_954986.2:p.Val133Leu
NM_199293.3:c.385G>T	NP_954987.2:p.Val129Leu