Canonical Allele Identifier: CA379112154

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2190897C>A (hg19) ; chr11:g.2169667C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169667C>A , CM000673.2:g.2169667C>A	GRCh38
NC_000011.9:g.2190897C>A , CM000673.1:g.2190897C>A	GRCh37
NC_000011.8:g.2147473C>A	NCBI36
NG_008128.1:g.7139G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.295G>T MANE Select	ENSP00000325951.4:p.Ala99Ser
ENST00000324155.8:c.119G>T	ENSP00000325831.3:p.Ser40Ile
ENST00000333684.9:c.295G>T	ENSP00000328814.6:p.Ala99Ser
ENST00000352909.7:c.295G>T	ENSP00000325951.3:p.Ala99Ser
ENST00000381168.7:c.131G>T	ENSP00000370560.3:p.Ser44Ile
ENST00000381175.5:c.376G>T	ENSP00000370567.1:p.Ala126Ser
ENST00000381178.5:c.388G>T	ENSP00000370571.1:p.Ala130Ser
NM_000360.3:c.295G>T	NP_000351.2:p.Ala99Ser
NM_199292.2:c.388G>T	NP_954986.2:p.Ala130Ser
NM_199293.2:c.376G>T	NP_954987.2:p.Ala126Ser
XM_011520335.1:c.307G>T	XP_011518637.1:p.Ala103Ser
XM_011520335.2:c.307G>T	XP_011518637.1:p.Ala103Ser
NM_000360.4:c.295G>T MANE Select	NP_000351.2:p.Ala99Ser
NM_199292.3:c.388G>T	NP_954986.2:p.Ala130Ser
NM_199293.3:c.376G>T	NP_954987.2:p.Ala126Ser