Canonical Allele Identifier: CA5818771

Gene: TH

Linked Data

• ClinVar Variation Id: 263252
• ClinVar RCV Id: RCV000245352 ; RCV000260953 ; RCV000713849
• dbSNP Id: rs34510659
• ExAC: 11:2191006 C / T
• gnomAD v2: 11-2191006-C-T
• gnomAD v3: 11-2169776-C-T
• gnomAD v4: 11-2169776-C-T
• MyVariant Identifiers: chr11:g.2191006C>T (hg19) ; chr11:g.2169776C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169776C>T , CM000673.2:g.2169776C>T	GRCh38
NC_000011.9:g.2191006C>T , CM000673.1:g.2191006C>T	GRCh37
NC_000011.8:g.2147582C>T	NCBI36
NG_008128.1:g.7030G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.186G>A MANE Select	ENSP00000325951.4:p.Ser62=
ENST00000324155.8:c.91-81G>A	ENSP00000325831.3:n.91-81G>A
ENST00000333684.9:c.186G>A	ENSP00000328814.6:p.Ser62=
ENST00000352909.7:c.186G>A	ENSP00000325951.3:p.Ser62=
ENST00000381168.7:c.103-81G>A	ENSP00000370560.3:n.103-81G>A
ENST00000381175.5:c.267G>A	ENSP00000370567.1:p.Ser89=
ENST00000381178.5:c.279G>A	ENSP00000370571.1:p.Ser93=
NM_000360.3:c.186G>A	NP_000351.2:p.Ser62=
NM_199292.2:c.279G>A	NP_954986.2:p.Ser93=
NM_199293.2:c.267G>A	NP_954987.2:p.Ser89=
XM_011520335.1:c.198G>A	XP_011518637.1:p.Ser66=
XM_011520335.2:c.198G>A	XP_011518637.1:p.Ser66=
NM_000360.4:c.186G>A MANE Select	NP_000351.2:p.Ser62=
NM_199292.3:c.279G>A	NP_954986.2:p.Ser93=
NM_199293.3:c.267G>A	NP_954987.2:p.Ser89=