Canonical Allele Identifier: CA379112732

Gene: TH

Linked Data

• gnomAD v4: 11-2171686-T-C
• MyVariant Identifiers: chr11:g.2192916T>C (hg19) ; chr11:g.2171686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171686T>C , CM000673.2:g.2171686T>C	GRCh38
NC_000011.9:g.2192916T>C , CM000673.1:g.2192916T>C	GRCh37
NC_000011.8:g.2149492T>C	NCBI36
NG_008128.1:g.5120A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.90+11A>G MANE Select	ENSP00000325951.4:n.90+11A>G
ENST00000324155.8:c.90+11A>G	ENSP00000325831.3:n.90+11A>G
ENST00000333684.9:c.90+11A>G	ENSP00000328814.6:n.90+11A>G
ENST00000352909.7:c.90+11A>G	ENSP00000325951.3:n.90+11A>G
ENST00000381168.7:c.101A>G	ENSP00000370560.3:p.Gln34Arg
ENST00000381175.5:c.90+11A>G	ENSP00000370567.1:n.90+11A>G
ENST00000381178.5:c.101A>G	ENSP00000370571.1:p.Gln34Arg
NM_000360.3:c.90+11A>G	NP_000351.2:n.90+11A>G
NM_199292.2:c.101A>G	NP_954986.2:p.Gln34Arg
NM_199293.2:c.90+11A>G	NP_954987.2:n.90+11A>G
XM_011520335.1:c.101A>G	XP_011518637.1:p.Gln34Arg
XM_011520335.2:c.101A>G	XP_011518637.1:p.Gln34Arg
NM_000360.4:c.90+11A>G MANE Select	NP_000351.2:n.90+11A>G
NM_199292.3:c.101A>G	NP_954986.2:p.Gln34Arg
NM_199293.3:c.90+11A>G	NP_954987.2:n.90+11A>G