Canonical Allele Identifier: CA379126825

Gene: TH

Linked Data

• dbSNP Id: rs757377732
• gnomAD v2: 11-2188191-G-C
• gnomAD v4: 11-2166961-G-C
• MyVariant Identifiers: chr11:g.2188191G>C (hg19) ; chr11:g.2166961G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166961G>C , CM000673.2:g.2166961G>C	GRCh38
NC_000011.9:g.2188191G>C , CM000673.1:g.2188191G>C	GRCh37
NC_000011.8:g.2144767G>C	NCBI36
NG_008128.1:g.9845C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.767C>G MANE Select	ENSP00000325951.4:p.Ala256Gly
ENST00000324155.8:c.*456C>G	ENSP00000325831.3:n.*456C>G
ENST00000333684.9:c.696-412C>G	ENSP00000328814.6:n.696-412C>G
ENST00000352909.7:c.767C>G	ENSP00000325951.3:p.Ala256Gly
ENST00000381168.7:c.*487C>G	ENSP00000370560.3:n.*487C>G
ENST00000381175.5:c.848C>G	ENSP00000370567.1:p.Ala283Gly
ENST00000381178.5:c.860C>G	ENSP00000370571.1:p.Ala287Gly
ENST00000412076.1:c.136-412C>G
ENST00000416223.5:c.136-193C>G
ENST00000469226.1:n.896C>G
ENST00000479437.5:n.316C>G
NM_000360.3:c.767C>G	NP_000351.2:p.Ala256Gly
NM_199292.2:c.860C>G	NP_954986.2:p.Ala287Gly
NM_199293.2:c.848C>G	NP_954987.2:p.Ala283Gly
XM_011520335.1:c.779C>G	XP_011518637.1:p.Ala260Gly
XM_011520335.2:c.779C>G	XP_011518637.1:p.Ala260Gly
NM_000360.4:c.767C>G MANE Select	NP_000351.2:p.Ala256Gly
NM_199292.3:c.860C>G	NP_954986.2:p.Ala287Gly
NM_199293.3:c.848C>G	NP_954987.2:p.Ala283Gly