Canonical Allele Identifier: CA5818514

Gene: TH

Linked Data

• dbSNP Id: rs755960694
• ExAC: 11:2188267 G / T
• gnomAD v2: 11-2188267-G-T
• gnomAD v4: 11-2167037-G-T
• MyVariant Identifiers: chr11:g.2188267G>T (hg19) ; chr11:g.2167037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167037G>T , CM000673.2:g.2167037G>T	GRCh38
NC_000011.9:g.2188267G>T , CM000673.1:g.2188267G>T	GRCh37
NC_000011.8:g.2144843G>T	NCBI36
NG_008128.1:g.9769C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-5C>A MANE Select	ENSP00000325951.4:n.696-5C>A
ENST00000324155.8:c.*385-5C>A	ENSP00000325831.3:n.*385-5C>A
ENST00000333684.9:c.695+398C>A	ENSP00000328814.6:n.695+398C>A
ENST00000352909.7:c.696-5C>A	ENSP00000325951.3:n.696-5C>A
ENST00000381168.7:c.*416-5C>A	ENSP00000370560.3:n.*416-5C>A
ENST00000381175.5:c.777-5C>A	ENSP00000370567.1:n.777-5C>A
ENST00000381178.5:c.789-5C>A	ENSP00000370571.1:n.789-5C>A
ENST00000412076.1:c.135+398C>A
ENST00000416223.5:c.136-269C>A
ENST00000469226.1:n.825-5C>A
ENST00000479437.5:n.240C>A
NM_000360.3:c.696-5C>A	NP_000351.2:n.696-5C>A
NM_199292.2:c.789-5C>A	NP_954986.2:n.789-5C>A
NM_199293.2:c.777-5C>A	NP_954987.2:n.777-5C>A
XM_011520335.1:c.708-5C>A	XP_011518637.1:n.708-5C>A
XM_011520335.2:c.708-5C>A	XP_011518637.1:n.708-5C>A
NM_000360.4:c.696-5C>A MANE Select	NP_000351.2:n.696-5C>A
NM_199292.3:c.789-5C>A	NP_954986.2:n.789-5C>A
NM_199293.3:c.777-5C>A	NP_954987.2:n.777-5C>A