Canonical Allele Identifier: CA472414094

Gene: TH

Linked Data

• ClinVar Variation Id: 1537809
• ClinVar RCV Id: RCV002092772
• dbSNP Id: rs1590167156
• gnomAD v4: 11-2166698-G-A
• MyVariant Identifiers: chr11:g.2187928G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166698G>A , CM000673.2:g.2166698G>A	GRCh38
NC_000011.9:g.2187928G>A , CM000673.1:g.2187928G>A	GRCh37
NC_000011.8:g.2144504G>A	NCBI36
NG_008128.1:g.10108C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.912C>T MANE Select	ENSP00000325951.4:p.Ala304=
ENST00000324155.8:c.*601C>T	ENSP00000325831.3:n.*601C>T
ENST00000333684.9:c.696-149C>T	ENSP00000328814.6:n.696-149C>T
ENST00000352909.7:c.912C>T	ENSP00000325951.3:p.Ala304=
ENST00000381168.7:c.*632C>T	ENSP00000370560.3:n.*632C>T
ENST00000381175.5:c.993C>T	ENSP00000370567.1:p.Ala331=
ENST00000381178.5:c.1005C>T	ENSP00000370571.1:p.Ala335=
ENST00000412076.1:c.136-149C>T
ENST00000416223.5:c.206C>T
ENST00000461172.1:n.77C>T
ENST00000479437.5:n.461C>T
NM_000360.3:c.912C>T	NP_000351.2:p.Ala304=
NM_199292.2:c.1005C>T	NP_954986.2:p.Ala335=
NM_199293.2:c.993C>T	NP_954987.2:p.Ala331=
XM_011520335.1:c.924C>T	XP_011518637.1:p.Ala308=
XM_011520335.2:c.924C>T	XP_011518637.1:p.Ala308=
NM_000360.4:c.912C>T MANE Select	NP_000351.2:p.Ala304=
NM_199292.3:c.1005C>T	NP_954986.2:p.Ala335=
NM_199293.3:c.993C>T	NP_954987.2:p.Ala331=