Canonical Allele Identifier: CA379126106

Gene: TH

Linked Data

• dbSNP Id: rs1443013381
• gnomAD v2: 11-2187872-G-C
• gnomAD v3: 11-2166642-G-C
• gnomAD v4: 11-2166642-G-C
• MyVariant Identifiers: chr11:g.2187872G>C (hg19) ; chr11:g.2166642G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166642G>C , CM000673.2:g.2166642G>C	GRCh38
NC_000011.9:g.2187872G>C , CM000673.1:g.2187872G>C	GRCh37
NC_000011.8:g.2144448G>C	NCBI36
NG_008128.1:g.10164C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.968C>G MANE Select	ENSP00000325951.4:p.Ser323Cys
ENST00000324155.8:c.*657C>G	ENSP00000325831.3:n.*657C>G
ENST00000333684.9:c.696-93C>G	ENSP00000328814.6:n.696-93C>G
ENST00000352909.7:c.968C>G	ENSP00000325951.3:p.Ser323Cys
ENST00000381168.7:c.*688C>G	ENSP00000370560.3:n.*688C>G
ENST00000381175.5:c.1049C>G	ENSP00000370567.1:p.Ser350Cys
ENST00000381178.5:c.1061C>G	ENSP00000370571.1:p.Ser354Cys
ENST00000412076.1:c.136-93C>G
ENST00000416223.5:c.262C>G
ENST00000461172.1:n.133C>G
ENST00000479437.5:n.517C>G
NM_000360.3:c.968C>G	NP_000351.2:p.Ser323Cys
NM_199292.2:c.1061C>G	NP_954986.2:p.Ser354Cys
NM_199293.2:c.1049C>G	NP_954987.2:p.Ser350Cys
XM_011520335.1:c.980C>G	XP_011518637.1:p.Ser327Cys
XM_011520335.2:c.980C>G	XP_011518637.1:p.Ser327Cys
NM_000360.4:c.968C>G MANE Select	NP_000351.2:p.Ser323Cys
NM_199292.3:c.1061C>G	NP_954986.2:p.Ser354Cys
NM_199293.3:c.1049C>G	NP_954987.2:p.Ser350Cys