Canonical Allele Identifier: CA379127080

Gene: TH

Linked Data

• gnomAD v4: 11-2167012-A-G
• MyVariant Identifiers: chr11:g.2188242A>G (hg19) ; chr11:g.2167012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167012A>G , CM000673.2:g.2167012A>G	GRCh38
NC_000011.9:g.2188242A>G , CM000673.1:g.2188242A>G	GRCh37
NC_000011.8:g.2144818A>G	NCBI36
NG_008128.1:g.9794T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.716T>C MANE Select	ENSP00000325951.4:p.Leu239Pro
ENST00000324155.8:c.*405T>C	ENSP00000325831.3:n.*405T>C
ENST00000333684.9:c.695+423T>C	ENSP00000328814.6:n.695+423T>C
ENST00000352909.7:c.716T>C	ENSP00000325951.3:p.Leu239Pro
ENST00000381168.7:c.*436T>C	ENSP00000370560.3:n.*436T>C
ENST00000381175.5:c.797T>C	ENSP00000370567.1:p.Leu266Pro
ENST00000381178.5:c.809T>C	ENSP00000370571.1:p.Leu270Pro
ENST00000412076.1:c.135+423T>C
ENST00000416223.5:c.136-244T>C
ENST00000469226.1:n.845T>C
ENST00000479437.5:n.265T>C
NM_000360.3:c.716T>C	NP_000351.2:p.Leu239Pro
NM_199292.2:c.809T>C	NP_954986.2:p.Leu270Pro
NM_199293.2:c.797T>C	NP_954987.2:p.Leu266Pro
XM_011520335.1:c.728T>C	XP_011518637.1:p.Leu243Pro
XM_011520335.2:c.728T>C	XP_011518637.1:p.Leu243Pro
NM_000360.4:c.716T>C MANE Select	NP_000351.2:p.Leu239Pro
NM_199292.3:c.809T>C	NP_954986.2:p.Leu270Pro
NM_199293.3:c.797T>C	NP_954987.2:p.Leu266Pro