Canonical Allele Identifier: CA216282475

Gene: TH

Linked Data

• dbSNP Id: rs536370680
• gnomAD v2: 11-2186287-T-C
• gnomAD v3: 11-2165057-T-C
• gnomAD v4: 11-2165057-T-C
• MyVariant Identifiers: chr11:g.2186287T>C (hg19) ; chr11:g.2165057T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165057T>C , CM000673.2:g.2165057T>C	GRCh38
NC_000011.9:g.2186287T>C , CM000673.1:g.2186287T>C	GRCh37
NC_000011.8:g.2142863T>C	NCBI36
NG_007114.1:g.1138A>G
NG_008128.1:g.11749A>G
NG_050578.1:g.1153A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1334+175A>G MANE Select	ENSP00000325951.4:n.1334+175A>G
ENST00000333684.9:c.1052+175A>G	ENSP00000328814.6:n.1052+175A>G
ENST00000352909.7:c.1334+175A>G	ENSP00000325951.3:n.1334+175A>G
ENST00000381175.5:c.1415+175A>G	ENSP00000370567.1:n.1415+175A>G
ENST00000381178.5:c.1427+175A>G	ENSP00000370571.1:n.1427+175A>G
NM_000360.3:c.1334+175A>G	NP_000351.2:n.1334+175A>G
NM_199292.2:c.1427+175A>G	NP_954986.2:n.1427+175A>G
NM_199293.2:c.1415+175A>G	NP_954987.2:n.1415+175A>G
XM_011520335.1:c.1346+175A>G	XP_011518637.1:n.1346+175A>G
XM_011520335.2:c.1346+175A>G	XP_011518637.1:n.1346+175A>G
NM_000360.4:c.1334+175A>G MANE Select	NP_000351.2:n.1334+175A>G
NM_199292.3:c.1427+175A>G	NP_954986.2:n.1427+175A>G
NM_199293.3:c.1415+175A>G	NP_954987.2:n.1415+175A>G