Canonical Allele Identifier: CA379112162

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2190903A>C (hg19) ; chr11:g.2169673A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169673A>C , CM000673.2:g.2169673A>C	GRCh38
NC_000011.9:g.2190903A>C , CM000673.1:g.2190903A>C	GRCh37
NC_000011.8:g.2147479A>C	NCBI36
NG_008128.1:g.7133T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.289T>G MANE Select	ENSP00000325951.4:p.Ser97Ala
ENST00000324155.8:c.113T>G	ENSP00000325831.3:p.Val38Gly
ENST00000333684.9:c.289T>G	ENSP00000328814.6:p.Ser97Ala
ENST00000352909.7:c.289T>G	ENSP00000325951.3:p.Ser97Ala
ENST00000381168.7:c.125T>G	ENSP00000370560.3:p.Val42Gly
ENST00000381175.5:c.370T>G	ENSP00000370567.1:p.Ser124Ala
ENST00000381178.5:c.382T>G	ENSP00000370571.1:p.Ser128Ala
NM_000360.3:c.289T>G	NP_000351.2:p.Ser97Ala
NM_199292.2:c.382T>G	NP_954986.2:p.Ser128Ala
NM_199293.2:c.370T>G	NP_954987.2:p.Ser124Ala
XM_011520335.1:c.301T>G	XP_011518637.1:p.Ser101Ala
XM_011520335.2:c.301T>G	XP_011518637.1:p.Ser101Ala
NM_000360.4:c.289T>G MANE Select	NP_000351.2:p.Ser97Ala
NM_199292.3:c.382T>G	NP_954986.2:p.Ser128Ala
NM_199293.3:c.370T>G	NP_954987.2:p.Ser124Ala