Canonical Allele Identifier: CA472414354

Gene: TH

Linked Data

• gnomAD v4: 11-2166975-G-A
• MyVariant Identifiers: chr11:g.2188205G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166975G>A , CM000673.2:g.2166975G>A	GRCh38
NC_000011.9:g.2188205G>A , CM000673.1:g.2188205G>A	GRCh37
NC_000011.8:g.2144781G>A	NCBI36
NG_008128.1:g.9831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.753C>T MANE Select	ENSP00000325951.4:p.His251=
ENST00000324155.8:c.*442C>T	ENSP00000325831.3:n.*442C>T
ENST00000333684.9:c.696-426C>T	ENSP00000328814.6:n.696-426C>T
ENST00000352909.7:c.753C>T	ENSP00000325951.3:p.His251=
ENST00000381168.7:c.*473C>T	ENSP00000370560.3:n.*473C>T
ENST00000381175.5:c.834C>T	ENSP00000370567.1:p.His278=
ENST00000381178.5:c.846C>T	ENSP00000370571.1:p.His282=
ENST00000412076.1:c.136-426C>T
ENST00000416223.5:c.136-207C>T
ENST00000469226.1:n.882C>T
ENST00000479437.5:n.302C>T
NM_000360.3:c.753C>T	NP_000351.2:p.His251=
NM_199292.2:c.846C>T	NP_954986.2:p.His282=
NM_199293.2:c.834C>T	NP_954987.2:p.His278=
XM_011520335.1:c.765C>T	XP_011518637.1:p.His255=
XM_011520335.2:c.765C>T	XP_011518637.1:p.His255=
NM_000360.4:c.753C>T MANE Select	NP_000351.2:p.His251=
NM_199292.3:c.846C>T	NP_954986.2:p.His282=
NM_199293.3:c.834C>T	NP_954987.2:p.His278=