Canonical Allele Identifier: CA379127173

Gene: TH

Linked Data

• gnomAD v4: 11-2167029-C-G
• MyVariant Identifiers: chr11:g.2188259C>G (hg19) ; chr11:g.2167029C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167029C>G , CM000673.2:g.2167029C>G	GRCh38
NC_000011.9:g.2188259C>G , CM000673.1:g.2188259C>G	GRCh37
NC_000011.8:g.2144835C>G	NCBI36
NG_008128.1:g.9777G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.699G>C MANE Select	ENSP00000325951.4:p.Lys233Asn
ENST00000324155.8:c.*388G>C	ENSP00000325831.3:n.*388G>C
ENST00000333684.9:c.695+406G>C	ENSP00000328814.6:n.695+406G>C
ENST00000352909.7:c.699G>C	ENSP00000325951.3:p.Lys233Asn
ENST00000381168.7:c.*419G>C	ENSP00000370560.3:n.*419G>C
ENST00000381175.5:c.780G>C	ENSP00000370567.1:p.Lys260Asn
ENST00000381178.5:c.792G>C	ENSP00000370571.1:p.Lys264Asn
ENST00000412076.1:c.135+406G>C
ENST00000416223.5:c.136-261G>C
ENST00000469226.1:n.828G>C
ENST00000479437.5:n.248G>C
NM_000360.3:c.699G>C	NP_000351.2:p.Lys233Asn
NM_199292.2:c.792G>C	NP_954986.2:p.Lys264Asn
NM_199293.2:c.780G>C	NP_954987.2:p.Lys260Asn
XM_011520335.1:c.711G>C	XP_011518637.1:p.Lys237Asn
XM_011520335.2:c.711G>C	XP_011518637.1:p.Lys237Asn
NM_000360.4:c.699G>C MANE Select	NP_000351.2:p.Lys233Asn
NM_199292.3:c.792G>C	NP_954986.2:p.Lys264Asn
NM_199293.3:c.780G>C	NP_954987.2:p.Lys260Asn