Canonical Allele Identifier: CA674600132

Gene: TH

Linked Data

• dbSNP Id: rs1253179222
• gnomAD v3: 11-2167087-C-A
• gnomAD v4: 11-2167087-C-A
• MyVariant Identifiers: chr11:g.2188317C>A (hg19) ; chr11:g.2167087C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167087C>A , CM000673.2:g.2167087C>A	GRCh38
NC_000011.9:g.2188317C>A , CM000673.1:g.2188317C>A	GRCh37
NC_000011.8:g.2144893C>A	NCBI36
NG_008128.1:g.9719G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-55G>T MANE Select	ENSP00000325951.4:n.696-55G>T
ENST00000324155.8:c.*385-55G>T	ENSP00000325831.3:n.*385-55G>T
ENST00000333684.9:c.695+348G>T	ENSP00000328814.6:n.695+348G>T
ENST00000352909.7:c.696-55G>T	ENSP00000325951.3:n.696-55G>T
ENST00000381168.7:c.*416-55G>T	ENSP00000370560.3:n.*416-55G>T
ENST00000381175.5:c.777-55G>T	ENSP00000370567.1:n.777-55G>T
ENST00000381178.5:c.789-55G>T	ENSP00000370571.1:n.789-55G>T
ENST00000412076.1:c.135+348G>T
ENST00000416223.5:c.136-319G>T
ENST00000469226.1:n.825-55G>T
ENST00000479437.5:n.190G>T
NM_000360.3:c.696-55G>T	NP_000351.2:n.696-55G>T
NM_199292.2:c.789-55G>T	NP_954986.2:n.789-55G>T
NM_199293.2:c.777-55G>T	NP_954987.2:n.777-55G>T
XM_011520335.1:c.708-55G>T	XP_011518637.1:n.708-55G>T
XM_011520335.2:c.708-55G>T	XP_011518637.1:n.708-55G>T
NM_000360.4:c.696-55G>T MANE Select	NP_000351.2:n.696-55G>T
NM_199292.3:c.789-55G>T	NP_954986.2:n.789-55G>T
NM_199293.3:c.777-55G>T	NP_954987.2:n.777-55G>T