Canonical Allele Identifier: CA379126206

Gene: TH

Linked Data

• gnomAD v4: 11-2166686-G-T
• MyVariant Identifiers: chr11:g.2187916G>T (hg19) ; chr11:g.2166686G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166686G>T , CM000673.2:g.2166686G>T	GRCh38
NC_000011.9:g.2187916G>T , CM000673.1:g.2187916G>T	GRCh37
NC_000011.8:g.2144492G>T	NCBI36
NG_008128.1:g.10120C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.924C>A MANE Select	ENSP00000325951.4:p.Phe308Leu
ENST00000324155.8:c.*613C>A	ENSP00000325831.3:n.*613C>A
ENST00000333684.9:c.696-137C>A	ENSP00000328814.6:n.696-137C>A
ENST00000352909.7:c.924C>A	ENSP00000325951.3:p.Phe308Leu
ENST00000381168.7:c.*644C>A	ENSP00000370560.3:n.*644C>A
ENST00000381175.5:c.1005C>A	ENSP00000370567.1:p.Phe335Leu
ENST00000381178.5:c.1017C>A	ENSP00000370571.1:p.Phe339Leu
ENST00000412076.1:c.136-137C>A
ENST00000416223.5:c.218C>A
ENST00000461172.1:n.89C>A
ENST00000479437.5:n.473C>A
NM_000360.3:c.924C>A	NP_000351.2:p.Phe308Leu
NM_199292.2:c.1017C>A	NP_954986.2:p.Phe339Leu
NM_199293.2:c.1005C>A	NP_954987.2:p.Phe335Leu
XM_011520335.1:c.936C>A	XP_011518637.1:p.Phe312Leu
XM_011520335.2:c.936C>A	XP_011518637.1:p.Phe312Leu
NM_000360.4:c.924C>A MANE Select	NP_000351.2:p.Phe308Leu
NM_199292.3:c.1017C>A	NP_954986.2:p.Phe339Leu
NM_199293.3:c.1005C>A	NP_954987.2:p.Phe335Leu