Canonical Allele Identifier: CA379112335

Gene: TH

Linked Data

• dbSNP Id: rs372393199
• gnomAD v2: 11-2190990-G-C
• gnomAD v4: 11-2169760-G-C
• MyVariant Identifiers: chr11:g.2190990G>C (hg19) ; chr11:g.2169760G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169760G>C , CM000673.2:g.2169760G>C	GRCh38
NC_000011.9:g.2190990G>C , CM000673.1:g.2190990G>C	GRCh37
NC_000011.8:g.2147566G>C	NCBI36
NG_008128.1:g.7046C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.202C>G MANE Select	ENSP00000325951.4:p.Leu68Val
ENST00000324155.8:c.91-65C>G	ENSP00000325831.3:n.91-65C>G
ENST00000333684.9:c.202C>G	ENSP00000328814.6:p.Leu68Val
ENST00000352909.7:c.202C>G	ENSP00000325951.3:p.Leu68Val
ENST00000381168.7:c.103-65C>G	ENSP00000370560.3:n.103-65C>G
ENST00000381175.5:c.283C>G	ENSP00000370567.1:p.Leu95Val
ENST00000381178.5:c.295C>G	ENSP00000370571.1:p.Leu99Val
NM_000360.3:c.202C>G	NP_000351.2:p.Leu68Val
NM_199292.2:c.295C>G	NP_954986.2:p.Leu99Val
NM_199293.2:c.283C>G	NP_954987.2:p.Leu95Val
XM_011520335.1:c.214C>G	XP_011518637.1:p.Leu72Val
XM_011520335.2:c.214C>G	XP_011518637.1:p.Leu72Val
NM_000360.4:c.202C>G MANE Select	NP_000351.2:p.Leu68Val
NM_199292.3:c.295C>G	NP_954986.2:p.Leu99Val
NM_199293.3:c.283C>G	NP_954987.2:p.Leu95Val