Canonical Allele Identifier: CA379125980

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187738G>C (hg19) ; chr11:g.2166508G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166508G>C , CM000673.2:g.2166508G>C	GRCh38
NC_000011.9:g.2187738G>C , CM000673.1:g.2187738G>C	GRCh37
NC_000011.8:g.2144314G>C	NCBI36
NG_008128.1:g.10298C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1019C>G MANE Select	ENSP00000325951.4:p.Ala340Gly
ENST00000324155.8:c.*708C>G	ENSP00000325831.3:n.*708C>G
ENST00000333684.9:c.737C>G	ENSP00000328814.6:p.Ala246Gly
ENST00000352909.7:c.1019C>G	ENSP00000325951.3:p.Ala340Gly
ENST00000381168.7:c.*739C>G	ENSP00000370560.3:n.*739C>G
ENST00000381175.5:c.1100C>G	ENSP00000370567.1:p.Ala367Gly
ENST00000381178.5:c.1112C>G	ENSP00000370571.1:p.Ala371Gly
ENST00000412076.1:c.177C>G
ENST00000416223.5:c.313C>G
ENST00000461172.1:n.184C>G
ENST00000479437.5:n.568C>G
NM_000360.3:c.1019C>G	NP_000351.2:p.Ala340Gly
NM_199292.2:c.1112C>G	NP_954986.2:p.Ala371Gly
NM_199293.2:c.1100C>G	NP_954987.2:p.Ala367Gly
XM_011520335.1:c.1031C>G	XP_011518637.1:p.Ala344Gly
XM_011520335.2:c.1031C>G	XP_011518637.1:p.Ala344Gly
NM_000360.4:c.1019C>G MANE Select	NP_000351.2:p.Ala340Gly
NM_199292.3:c.1112C>G	NP_954986.2:p.Ala371Gly
NM_199293.3:c.1100C>G	NP_954987.2:p.Ala367Gly