Canonical Allele Identifier: CA5818897

Gene: TH

Linked Data

• ClinVar Variation Id: 556248
• ClinVar RCV Id: RCV000672231
• dbSNP Id: rs201932766
• ExAC: 11:2193015 A / G
• gnomAD v2: 11-2193015-A-G
• gnomAD v3: 11-2171785-A-G
• gnomAD v4: 11-2171785-A-G
• MyVariant Identifiers: chr11:g.2193015A>G (hg19) ; chr11:g.2171785A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171785A>G , CM000673.2:g.2171785A>G	GRCh38
NC_000011.9:g.2193015A>G , CM000673.1:g.2193015A>G	GRCh37
NC_000011.8:g.2149591A>G	NCBI36
NG_008128.1:g.5021T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.2T>C MANE Select	ENSP00000325951.4:p.Met1Thr
ENST00000324155.8:c.2T>C	ENSP00000325831.3:p.Met1Thr
ENST00000333684.9:c.2T>C	ENSP00000328814.6:p.Met1Thr
ENST00000352909.7:c.2T>C	ENSP00000325951.3:p.Met1Thr
ENST00000381168.7:c.2T>C	ENSP00000370560.3:p.Met1Thr
ENST00000381175.5:c.2T>C	ENSP00000370567.1:p.Met1Thr
ENST00000381178.5:c.2T>C	ENSP00000370571.1:p.Met1Thr
NM_000360.3:c.2T>C	NP_000351.2:p.Met1Thr
NM_199292.2:c.2T>C	NP_954986.2:p.Met1Thr
NM_199293.2:c.2T>C	NP_954987.2:p.Met1Thr
XM_011520335.1:c.2T>C	XP_011518637.1:p.Met1Thr
XM_011520335.2:c.2T>C	XP_011518637.1:p.Met1Thr
NM_000360.4:c.2T>C MANE Select	NP_000351.2:p.Met1Thr
NM_199292.3:c.2T>C	NP_954986.2:p.Met1Thr
NM_199293.3:c.2T>C	NP_954987.2:p.Met1Thr