Canonical Allele Identifier: CA472414103

Gene: TH

Linked Data

• gnomAD v4: 11-2166701-C-A
• MyVariant Identifiers: chr11:g.2187931C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166701C>A , CM000673.2:g.2166701C>A	GRCh38
NC_000011.9:g.2187931C>A , CM000673.1:g.2187931C>A	GRCh37
NC_000011.8:g.2144507C>A	NCBI36
NG_008128.1:g.10105G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.909G>T MANE Select	ENSP00000325951.4:p.Leu303=
ENST00000324155.8:c.*598G>T	ENSP00000325831.3:n.*598G>T
ENST00000333684.9:c.696-152G>T	ENSP00000328814.6:n.696-152G>T
ENST00000352909.7:c.909G>T	ENSP00000325951.3:p.Leu303=
ENST00000381168.7:c.*629G>T	ENSP00000370560.3:n.*629G>T
ENST00000381175.5:c.990G>T	ENSP00000370567.1:p.Leu330=
ENST00000381178.5:c.1002G>T	ENSP00000370571.1:p.Leu334=
ENST00000412076.1:c.136-152G>T
ENST00000416223.5:c.203G>T
ENST00000461172.1:n.74G>T
ENST00000479437.5:n.458G>T
NM_000360.3:c.909G>T	NP_000351.2:p.Leu303=
NM_199292.2:c.1002G>T	NP_954986.2:p.Leu334=
NM_199293.2:c.990G>T	NP_954987.2:p.Leu330=
XM_011520335.1:c.921G>T	XP_011518637.1:p.Leu307=
XM_011520335.2:c.921G>T	XP_011518637.1:p.Leu307=
NM_000360.4:c.909G>T MANE Select	NP_000351.2:p.Leu303=
NM_199292.3:c.1002G>T	NP_954986.2:p.Leu334=
NM_199293.3:c.990G>T	NP_954987.2:p.Leu330=