Canonical Allele Identifier: CA379128085

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2189130T>A (hg19) ; chr11:g.2167900T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167900T>A , CM000673.2:g.2167900T>A	GRCh38
NC_000011.9:g.2189130T>A , CM000673.1:g.2189130T>A	GRCh37
NC_000011.8:g.2145706T>A	NCBI36
NG_008128.1:g.8906A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.610A>T MANE Select	ENSP00000325951.4:p.Lys204Ter
ENST00000324155.8:c.*299A>T	ENSP00000325831.3:n.*299A>T
ENST00000333684.9:c.610A>T	ENSP00000328814.6:p.Lys204Ter
ENST00000352909.7:c.610A>T	ENSP00000325951.3:p.Lys204Ter
ENST00000381168.7:c.*299A>T	ENSP00000370560.3:n.*299A>T
ENST00000381175.5:c.691A>T	ENSP00000370567.1:p.Lys231Ter
ENST00000381178.5:c.703A>T	ENSP00000370571.1:p.Lys235Ter
ENST00000412076.1:c.50A>T
ENST00000416223.5:c.50A>T
ENST00000469226.1:n.359A>T
NM_000360.3:c.610A>T	NP_000351.2:p.Lys204Ter
NM_199292.2:c.703A>T	NP_954986.2:p.Lys235Ter
NM_199293.2:c.691A>T	NP_954987.2:p.Lys231Ter
XM_011520335.1:c.622A>T	XP_011518637.1:p.Lys208Ter
XM_011520335.2:c.622A>T	XP_011518637.1:p.Lys208Ter
NM_000360.4:c.610A>T MANE Select	NP_000351.2:p.Lys204Ter
NM_199292.3:c.703A>T	NP_954986.2:p.Lys235Ter
NM_199293.3:c.691A>T	NP_954987.2:p.Lys231Ter