Canonical Allele Identifier: CA379112153

Gene: TH

Linked Data

• dbSNP Id: rs1213326101
• gnomAD v4: 11-2169666-G-T
• MyVariant Identifiers: chr11:g.2190896G>T (hg19) ; chr11:g.2169666G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169666G>T , CM000673.2:g.2169666G>T	GRCh38
NC_000011.9:g.2190896G>T , CM000673.1:g.2190896G>T	GRCh37
NC_000011.8:g.2147472G>T	NCBI36
NG_008128.1:g.7140C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.296C>A MANE Select	ENSP00000325951.4:p.Ala99Asp
ENST00000324155.8:c.120C>A	ENSP00000325831.3:p.Ser40Arg
ENST00000333684.9:c.296C>A	ENSP00000328814.6:p.Ala99Asp
ENST00000352909.7:c.296C>A	ENSP00000325951.3:p.Ala99Asp
ENST00000381168.7:c.132C>A	ENSP00000370560.3:p.Ser44Arg
ENST00000381175.5:c.377C>A	ENSP00000370567.1:p.Ala126Asp
ENST00000381178.5:c.389C>A	ENSP00000370571.1:p.Ala130Asp
NM_000360.3:c.296C>A	NP_000351.2:p.Ala99Asp
NM_199292.2:c.389C>A	NP_954986.2:p.Ala130Asp
NM_199293.2:c.377C>A	NP_954987.2:p.Ala126Asp
XM_011520335.1:c.308C>A	XP_011518637.1:p.Ala103Asp
XM_011520335.2:c.308C>A	XP_011518637.1:p.Ala103Asp
NM_000360.4:c.296C>A MANE Select	NP_000351.2:p.Ala99Asp
NM_199292.3:c.389C>A	NP_954986.2:p.Ala130Asp
NM_199293.3:c.377C>A	NP_954987.2:p.Ala126Asp