Canonical Allele Identifier: CA379127500

Gene: TH

Linked Data

• ClinVar Variation Id: 2127479
• ClinVar RCV Id: RCV003055520
• gnomAD v4: 11-2167478-G-A
• MyVariant Identifiers: chr11:g.2188708G>A (hg19) ; chr11:g.2167478G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167478G>A , CM000673.2:g.2167478G>A	GRCh38
NC_000011.9:g.2188708G>A , CM000673.1:g.2188708G>A	GRCh37
NC_000011.8:g.2145284G>A	NCBI36
NG_008128.1:g.9328C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.652C>T MANE Select	ENSP00000325951.4:p.Pro218Ser
ENST00000324155.8:c.*341C>T	ENSP00000325831.3:n.*341C>T
ENST00000333684.9:c.652C>T	ENSP00000328814.6:p.Pro218Ser
ENST00000352909.7:c.652C>T	ENSP00000325951.3:p.Pro218Ser
ENST00000381168.7:c.*372C>T	ENSP00000370560.3:n.*372C>T
ENST00000381175.5:c.733C>T	ENSP00000370567.1:p.Pro245Ser
ENST00000381178.5:c.745C>T	ENSP00000370571.1:p.Pro249Ser
ENST00000412076.1:c.92C>T
ENST00000416223.5:c.92C>T
ENST00000469226.1:n.781C>T
NM_000360.3:c.652C>T	NP_000351.2:p.Pro218Ser
NM_199292.2:c.745C>T	NP_954986.2:p.Pro249Ser
NM_199293.2:c.733C>T	NP_954987.2:p.Pro245Ser
XM_011520335.1:c.664C>T	XP_011518637.1:p.Pro222Ser
XM_011520335.2:c.664C>T	XP_011518637.1:p.Pro222Ser
NM_000360.4:c.652C>T MANE Select	NP_000351.2:p.Pro218Ser
NM_199292.3:c.745C>T	NP_954986.2:p.Pro249Ser
NM_199293.3:c.733C>T	NP_954987.2:p.Pro245Ser