Canonical Allele Identifier: CA472413892

Gene: TH

Linked Data

• dbSNP Id: rs2133692241
• gnomAD v4: 11-2166507-G-A
• MyVariant Identifiers: chr11:g.2187737G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166507G>A , CM000673.2:g.2166507G>A	GRCh38
NC_000011.9:g.2187737G>A , CM000673.1:g.2187737G>A	GRCh37
NC_000011.8:g.2144313G>A	NCBI36
NG_008128.1:g.10299C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1020C>T MANE Select	ENSP00000325951.4:p.Ala340=
ENST00000324155.8:c.*709C>T	ENSP00000325831.3:n.*709C>T
ENST00000333684.9:c.738C>T	ENSP00000328814.6:p.Ala246=
ENST00000352909.7:c.1020C>T	ENSP00000325951.3:p.Ala340=
ENST00000381168.7:c.*740C>T	ENSP00000370560.3:n.*740C>T
ENST00000381175.5:c.1101C>T	ENSP00000370567.1:p.Ala367=
ENST00000381178.5:c.1113C>T	ENSP00000370571.1:p.Ala371=
ENST00000412076.1:c.178C>T
ENST00000416223.5:c.314C>T
ENST00000461172.1:n.185C>T
ENST00000479437.5:n.569C>T
NM_000360.3:c.1020C>T	NP_000351.2:p.Ala340=
NM_199292.2:c.1113C>T	NP_954986.2:p.Ala371=
NM_199293.2:c.1101C>T	NP_954987.2:p.Ala367=
XM_011520335.1:c.1032C>T	XP_011518637.1:p.Ala344=
XM_011520335.2:c.1032C>T	XP_011518637.1:p.Ala344=
NM_000360.4:c.1020C>T MANE Select	NP_000351.2:p.Ala340=
NM_199292.3:c.1113C>T	NP_954986.2:p.Ala371=
NM_199293.3:c.1101C>T	NP_954987.2:p.Ala367=