Canonical Allele Identifier: CA472414091

Gene: TH

Linked Data

• gnomAD v4: 11-2166695-G-A
• MyVariant Identifiers: chr11:g.2187925G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166695G>A , CM000673.2:g.2166695G>A	GRCh38
NC_000011.9:g.2187925G>A , CM000673.1:g.2187925G>A	GRCh37
NC_000011.8:g.2144501G>A	NCBI36
NG_008128.1:g.10111C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.915C>T MANE Select	ENSP00000325951.4:p.Phe305=
ENST00000324155.8:c.*604C>T	ENSP00000325831.3:n.*604C>T
ENST00000333684.9:c.696-146C>T	ENSP00000328814.6:n.696-146C>T
ENST00000352909.7:c.915C>T	ENSP00000325951.3:p.Phe305=
ENST00000381168.7:c.*635C>T	ENSP00000370560.3:n.*635C>T
ENST00000381175.5:c.996C>T	ENSP00000370567.1:p.Phe332=
ENST00000381178.5:c.1008C>T	ENSP00000370571.1:p.Phe336=
ENST00000412076.1:c.136-146C>T
ENST00000416223.5:c.209C>T
ENST00000461172.1:n.80C>T
ENST00000479437.5:n.464C>T
NM_000360.3:c.915C>T	NP_000351.2:p.Phe305=
NM_199292.2:c.1008C>T	NP_954986.2:p.Phe336=
NM_199293.2:c.996C>T	NP_954987.2:p.Phe332=
XM_011520335.1:c.927C>T	XP_011518637.1:p.Phe309=
XM_011520335.2:c.927C>T	XP_011518637.1:p.Phe309=
NM_000360.4:c.915C>T MANE Select	NP_000351.2:p.Phe305=
NM_199292.3:c.1008C>T	NP_954986.2:p.Phe336=
NM_199293.3:c.996C>T	NP_954987.2:p.Phe332=