Canonical Allele Identifier: CA379125998

Gene: TH

Linked Data

• ClinVar Variation Id: 1363733
• ClinVar RCV Id: RCV001905059
• dbSNP Id: rs2133692289
• gnomAD v4: 11-2166517-G-A
• MyVariant Identifiers: chr11:g.2187747G>A (hg19) ; chr11:g.2166517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166517G>A , CM000673.2:g.2166517G>A	GRCh38
NC_000011.9:g.2187747G>A , CM000673.1:g.2187747G>A	GRCh37
NC_000011.8:g.2144323G>A	NCBI36
NG_008128.1:g.10289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1010C>T MANE Select	ENSP00000325951.4:p.Pro337Leu
ENST00000324155.8:c.*699C>T	ENSP00000325831.3:n.*699C>T
ENST00000333684.9:c.728C>T	ENSP00000328814.6:p.Pro243Leu
ENST00000352909.7:c.1010C>T	ENSP00000325951.3:p.Pro337Leu
ENST00000381168.7:c.*730C>T	ENSP00000370560.3:n.*730C>T
ENST00000381175.5:c.1091C>T	ENSP00000370567.1:p.Pro364Leu
ENST00000381178.5:c.1103C>T	ENSP00000370571.1:p.Pro368Leu
ENST00000412076.1:c.168C>T
ENST00000416223.5:c.304C>T
ENST00000461172.1:n.175C>T
ENST00000479437.5:n.559C>T
NM_000360.3:c.1010C>T	NP_000351.2:p.Pro337Leu
NM_199292.2:c.1103C>T	NP_954986.2:p.Pro368Leu
NM_199293.2:c.1091C>T	NP_954987.2:p.Pro364Leu
XM_011520335.1:c.1022C>T	XP_011518637.1:p.Pro341Leu
XM_011520335.2:c.1022C>T	XP_011518637.1:p.Pro341Leu
NM_000360.4:c.1010C>T MANE Select	NP_000351.2:p.Pro337Leu
NM_199292.3:c.1103C>T	NP_954986.2:p.Pro368Leu
NM_199293.3:c.1091C>T	NP_954987.2:p.Pro364Leu