Canonical Allele Identifier: CA5818737

Gene: TH

Linked Data

• ClinVar Variation Id: 1098938
• ClinVar RCV Id: RCV001421072 ; RCV003946101
• dbSNP Id: rs749856378
• ExAC: 11:2190907 C / T
• gnomAD v2: 11-2190907-C-T
• gnomAD v3: 11-2169677-C-T
• gnomAD v4: 11-2169677-C-T
• MyVariant Identifiers: chr11:g.2190907C>T (hg19) ; chr11:g.2169677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169677C>T , CM000673.2:g.2169677C>T	GRCh38
NC_000011.9:g.2190907C>T , CM000673.1:g.2190907C>T	GRCh37
NC_000011.8:g.2147483C>T	NCBI36
NG_008128.1:g.7129G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.285G>A MANE Select	ENSP00000325951.4:p.Ala95=
ENST00000324155.8:c.109G>A	ENSP00000325831.3:p.Ala37Thr
ENST00000333684.9:c.285G>A	ENSP00000328814.6:p.Ala95=
ENST00000352909.7:c.285G>A	ENSP00000325951.3:p.Ala95=
ENST00000381168.7:c.121G>A	ENSP00000370560.3:p.Ala41Thr
ENST00000381175.5:c.366G>A	ENSP00000370567.1:p.Ala122=
ENST00000381178.5:c.378G>A	ENSP00000370571.1:p.Ala126=
NM_000360.3:c.285G>A	NP_000351.2:p.Ala95=
NM_199292.2:c.378G>A	NP_954986.2:p.Ala126=
NM_199293.2:c.366G>A	NP_954987.2:p.Ala122=
XM_011520335.1:c.297G>A	XP_011518637.1:p.Ala99=
XM_011520335.2:c.297G>A	XP_011518637.1:p.Ala99=
NM_000360.4:c.285G>A MANE Select	NP_000351.2:p.Ala95=
NM_199292.3:c.378G>A	NP_954986.2:p.Ala126=
NM_199293.3:c.366G>A	NP_954987.2:p.Ala122=