Canonical Allele Identifier: CA379126133

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187884G>C (hg19) ; chr11:g.2166654G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166654G>C , CM000673.2:g.2166654G>C	GRCh38
NC_000011.9:g.2187884G>C , CM000673.1:g.2187884G>C	GRCh37
NC_000011.8:g.2144460G>C	NCBI36
NG_008128.1:g.10152C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.956C>G MANE Select	ENSP00000325951.4:p.Ser319Trp
ENST00000324155.8:c.*645C>G	ENSP00000325831.3:n.*645C>G
ENST00000333684.9:c.696-105C>G	ENSP00000328814.6:n.696-105C>G
ENST00000352909.7:c.956C>G	ENSP00000325951.3:p.Ser319Trp
ENST00000381168.7:c.*676C>G	ENSP00000370560.3:n.*676C>G
ENST00000381175.5:c.1037C>G	ENSP00000370567.1:p.Ser346Trp
ENST00000381178.5:c.1049C>G	ENSP00000370571.1:p.Ser350Trp
ENST00000412076.1:c.136-105C>G
ENST00000416223.5:c.250C>G
ENST00000461172.1:n.121C>G
ENST00000479437.5:n.505C>G
NM_000360.3:c.956C>G	NP_000351.2:p.Ser319Trp
NM_199292.2:c.1049C>G	NP_954986.2:p.Ser350Trp
NM_199293.2:c.1037C>G	NP_954987.2:p.Ser346Trp
XM_011520335.1:c.968C>G	XP_011518637.1:p.Ser323Trp
XM_011520335.2:c.968C>G	XP_011518637.1:p.Ser323Trp
NM_000360.4:c.956C>G MANE Select	NP_000351.2:p.Ser319Trp
NM_199292.3:c.1049C>G	NP_954986.2:p.Ser350Trp
NM_199293.3:c.1037C>G	NP_954987.2:p.Ser346Trp