Canonical Allele Identifier: CA379126217

Gene: TH

Linked Data

• dbSNP Id: rs1294889301
• gnomAD v2: 11-2187921-C-T
• gnomAD v3: 11-2166691-C-T
• gnomAD v4: 11-2166691-C-T
• MyVariant Identifiers: chr11:g.2187921C>T (hg19) ; chr11:g.2166691C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166691C>T , CM000673.2:g.2166691C>T	GRCh38
NC_000011.9:g.2187921C>T , CM000673.1:g.2187921C>T	GRCh37
NC_000011.8:g.2144497C>T	NCBI36
NG_008128.1:g.10115G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.919G>A MANE Select	ENSP00000325951.4:p.Val307Met
ENST00000324155.8:c.*608G>A	ENSP00000325831.3:n.*608G>A
ENST00000333684.9:c.696-142G>A	ENSP00000328814.6:n.696-142G>A
ENST00000352909.7:c.919G>A	ENSP00000325951.3:p.Val307Met
ENST00000381168.7:c.*639G>A	ENSP00000370560.3:n.*639G>A
ENST00000381175.5:c.1000G>A	ENSP00000370567.1:p.Val334Met
ENST00000381178.5:c.1012G>A	ENSP00000370571.1:p.Val338Met
ENST00000412076.1:c.136-142G>A
ENST00000416223.5:c.213G>A
ENST00000461172.1:n.84G>A
ENST00000479437.5:n.468G>A
NM_000360.3:c.919G>A	NP_000351.2:p.Val307Met
NM_199292.2:c.1012G>A	NP_954986.2:p.Val338Met
NM_199293.2:c.1000G>A	NP_954987.2:p.Val334Met
XM_011520335.1:c.931G>A	XP_011518637.1:p.Val311Met
XM_011520335.2:c.931G>A	XP_011518637.1:p.Val311Met
NM_000360.4:c.919G>A MANE Select	NP_000351.2:p.Val307Met
NM_199292.3:c.1012G>A	NP_954986.2:p.Val338Met
NM_199293.3:c.1000G>A	NP_954987.2:p.Val334Met