Canonical Allele Identifier: CA5818902

Gene: TH

Linked Data

• ClinVar Variation Id: 304088
• ClinVar RCV Id: RCV000327849
• dbSNP Id: rs370306636
• ExAC: 11:2193034 C / T
• gnomAD v2: 11-2193034-C-T
• gnomAD v3: 11-2171804-C-T
• gnomAD v4: 11-2171804-C-T
• MyVariant Identifiers: chr11:g.2193034C>T (hg19) ; chr11:g.2171804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171804C>T , CM000673.2:g.2171804C>T	GRCh38
NC_000011.9:g.2193034C>T , CM000673.1:g.2193034C>T	GRCh37
NC_000011.8:g.2149610C>T	NCBI36
NG_008128.1:g.5002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.-18G>A MANE Select	ENSP00000325951.4:n.-18G>A
ENST00000324155.8:c.-18G>A	ENSP00000325831.3:n.-18G>A
ENST00000333684.9:c.-18G>A	ENSP00000328814.6:n.-18G>A
ENST00000352909.7:c.-18G>A	ENSP00000325951.3:n.-18G>A
ENST00000381168.7:c.-18G>A	ENSP00000370560.3:n.-18G>A
ENST00000381175.5:c.-18G>A	ENSP00000370567.1:n.-18G>A
ENST00000381178.5:c.-18G>A	ENSP00000370571.1:n.-18G>A
NM_000360.3:c.-18G>A	NP_000351.2:n.-18G>A
NM_199292.2:c.-18G>A	NP_954986.2:n.-18G>A
NM_199293.2:c.-18G>A	NP_954987.2:n.-18G>A
XM_011520335.1:c.-18G>A	XP_011518637.1:n.-18G>A
XM_011520335.2:c.-18G>A	XP_011518637.1:n.-18G>A
NM_000360.4:c.-18G>A MANE Select	NP_000351.2:n.-18G>A
NM_199292.3:c.-18G>A	NP_954986.2:n.-18G>A
NM_199293.3:c.-18G>A	NP_954987.2:n.-18G>A