Canonical Allele Identifier: CA5818899

Gene: TH

Linked Data

• dbSNP Id: rs751603907
• ExAC: 11:2193024 T / C
• gnomAD v2: 11-2193024-T-C
• MyVariant Identifiers: chr11:g.2193024T>C (hg19) ; chr11:g.2171794T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171794T>C , CM000673.2:g.2171794T>C	GRCh38
NC_000011.9:g.2193024T>C , CM000673.1:g.2193024T>C	GRCh37
NC_000011.8:g.2149600T>C	NCBI36
NG_008128.1:g.5012A>G

Transcript Alleles

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