Canonical Allele Identifier: CA379126177

Gene: TH

Linked Data

• gnomAD v4: 11-2166674-C-G
• MyVariant Identifiers: chr11:g.2187904C>G (hg19) ; chr11:g.2166674C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166674C>G , CM000673.2:g.2166674C>G	GRCh38
NC_000011.9:g.2187904C>G , CM000673.1:g.2187904C>G	GRCh37
NC_000011.8:g.2144480C>G	NCBI36
NG_008128.1:g.10132G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.936G>C MANE Select	ENSP00000325951.4:p.Gln312His
ENST00000324155.8:c.*625G>C	ENSP00000325831.3:n.*625G>C
ENST00000333684.9:c.696-125G>C	ENSP00000328814.6:n.696-125G>C
ENST00000352909.7:c.936G>C	ENSP00000325951.3:p.Gln312His
ENST00000381168.7:c.*656G>C	ENSP00000370560.3:n.*656G>C
ENST00000381175.5:c.1017G>C	ENSP00000370567.1:p.Gln339His
ENST00000381178.5:c.1029G>C	ENSP00000370571.1:p.Gln343His
ENST00000412076.1:c.136-125G>C
ENST00000416223.5:c.230G>C
ENST00000461172.1:n.101G>C
ENST00000479437.5:n.485G>C
NM_000360.3:c.936G>C	NP_000351.2:p.Gln312His
NM_199292.2:c.1029G>C	NP_954986.2:p.Gln343His
NM_199293.2:c.1017G>C	NP_954987.2:p.Gln339His
XM_011520335.1:c.948G>C	XP_011518637.1:p.Gln316His
XM_011520335.2:c.948G>C	XP_011518637.1:p.Gln316His
NM_000360.4:c.936G>C MANE Select	NP_000351.2:p.Gln312His
NM_199292.3:c.1029G>C	NP_954986.2:p.Gln343His
NM_199293.3:c.1017G>C	NP_954987.2:p.Gln339His