Canonical Allele Identifier: CA472414073

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187916G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.924C>T MANE Select	ENSP00000325951.4:p.Phe308=
ENST00000324155.8:c.*613C>T	ENSP00000325831.3:n.*613C>T
ENST00000333684.9:c.696-137C>T	ENSP00000328814.6:n.696-137C>T
ENST00000352909.7:c.924C>T	ENSP00000325951.3:p.Phe308=
ENST00000381168.7:c.*644C>T	ENSP00000370560.3:n.*644C>T
ENST00000381175.5:c.1005C>T	ENSP00000370567.1:p.Phe335=
ENST00000381178.5:c.1017C>T	ENSP00000370571.1:p.Phe339=
ENST00000412076.1:c.136-137C>T
ENST00000416223.5:c.218C>T
ENST00000461172.1:n.89C>T
ENST00000479437.5:n.473C>T
NM_000360.3:c.924C>T	NP_000351.2:p.Phe308=
NM_199292.2:c.1017C>T	NP_954986.2:p.Phe339=
NM_199293.2:c.1005C>T	NP_954987.2:p.Phe335=
XM_011520335.1:c.936C>T	XP_011518637.1:p.Phe312=
XM_011520335.2:c.936C>T	XP_011518637.1:p.Phe312=
NM_000360.4:c.924C>T MANE Select	NP_000351.2:p.Phe308=
NM_199292.3:c.1017C>T	NP_954986.2:p.Phe339=
NM_199293.3:c.1005C>T	NP_954987.2:p.Phe335=