Canonical Allele Identifier: CA379126214

Gene: TH

Linked Data

• ClinVar Variation Id: 2585563
• ClinVar RCV Id: RCV003338180
• gnomAD v4: 11-2166690-A-G
• MyVariant Identifiers: chr11:g.2187920A>G (hg19) ; chr11:g.2166690A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166690A>G , CM000673.2:g.2166690A>G	GRCh38
NC_000011.9:g.2187920A>G , CM000673.1:g.2187920A>G	GRCh37
NC_000011.8:g.2144496A>G	NCBI36
NG_008128.1:g.10116T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.920T>C MANE Select	ENSP00000325951.4:p.Val307Ala
ENST00000324155.8:c.*609T>C	ENSP00000325831.3:n.*609T>C
ENST00000333684.9:c.696-141T>C	ENSP00000328814.6:n.696-141T>C
ENST00000352909.7:c.920T>C	ENSP00000325951.3:p.Val307Ala
ENST00000381168.7:c.*640T>C	ENSP00000370560.3:n.*640T>C
ENST00000381175.5:c.1001T>C	ENSP00000370567.1:p.Val334Ala
ENST00000381178.5:c.1013T>C	ENSP00000370571.1:p.Val338Ala
ENST00000412076.1:c.136-141T>C
ENST00000416223.5:c.214T>C
ENST00000461172.1:n.85T>C
ENST00000479437.5:n.469T>C
NM_000360.3:c.920T>C	NP_000351.2:p.Val307Ala
NM_199292.2:c.1013T>C	NP_954986.2:p.Val338Ala
NM_199293.2:c.1001T>C	NP_954987.2:p.Val334Ala
XM_011520335.1:c.932T>C	XP_011518637.1:p.Val311Ala
XM_011520335.2:c.932T>C	XP_011518637.1:p.Val311Ala
NM_000360.4:c.920T>C MANE Select	NP_000351.2:p.Val307Ala
NM_199292.3:c.1013T>C	NP_954986.2:p.Val338Ala
NM_199293.3:c.1001T>C	NP_954987.2:p.Val334Ala