Canonical Allele Identifier: CA5818898

Gene: TH

Linked Data

• ClinVar Variation Id: 878637
• ClinVar RCV Id: RCV001105394
• dbSNP Id: rs199925956
• ExAC: 11:2193023 G / A
• gnomAD v2: 11-2193023-G-A
• gnomAD v3: 11-2171793-G-A
• gnomAD v4: 11-2171793-G-A
• MyVariant Identifiers: chr11:g.2193023G>A (hg19) ; chr11:g.2171793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171793G>A , CM000673.2:g.2171793G>A	GRCh38
NC_000011.9:g.2193023G>A , CM000673.1:g.2193023G>A	GRCh37
NC_000011.8:g.2149599G>A	NCBI36
NG_008128.1:g.5013C>T

Transcript Alleles

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