Canonical Allele Identifier: CA472034954

Gene: TH

Linked Data

• gnomAD v4: 11-2167023-G-T
• MyVariant Identifiers: chr11:g.2188253G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167023G>T , CM000673.2:g.2167023G>T	GRCh38
NC_000011.9:g.2188253G>T , CM000673.1:g.2188253G>T	GRCh37
NC_000011.8:g.2144829G>T	NCBI36
NG_008128.1:g.9783C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.705C>A MANE Select	ENSP00000325951.4:p.Val235=
ENST00000324155.8:c.*394C>A	ENSP00000325831.3:n.*394C>A
ENST00000333684.9:c.695+412C>A	ENSP00000328814.6:n.695+412C>A
ENST00000352909.7:c.705C>A	ENSP00000325951.3:p.Val235=
ENST00000381168.7:c.*425C>A	ENSP00000370560.3:n.*425C>A
ENST00000381175.5:c.786C>A	ENSP00000370567.1:p.Val262=
ENST00000381178.5:c.798C>A	ENSP00000370571.1:p.Val266=
ENST00000412076.1:c.135+412C>A
ENST00000416223.5:c.136-255C>A
ENST00000469226.1:n.834C>A
ENST00000479437.5:n.254C>A
NM_000360.3:c.705C>A	NP_000351.2:p.Val235=
NM_199292.2:c.798C>A	NP_954986.2:p.Val266=
NM_199293.2:c.786C>A	NP_954987.2:p.Val262=
XM_011520335.1:c.717C>A	XP_011518637.1:p.Val239=
XM_011520335.2:c.717C>A	XP_011518637.1:p.Val239=
NM_000360.4:c.705C>A MANE Select	NP_000351.2:p.Val235=
NM_199292.3:c.798C>A	NP_954986.2:p.Val266=
NM_199293.3:c.786C>A	NP_954987.2:p.Val262=