Canonical Allele Identifier: CA379126624

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188150G>T (hg19) ; chr11:g.2166920G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166920G>T , CM000673.2:g.2166920G>T	GRCh38
NC_000011.9:g.2188150G>T , CM000673.1:g.2188150G>T	GRCh37
NC_000011.8:g.2144726G>T	NCBI36
NG_008128.1:g.9886C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.808C>A MANE Select	ENSP00000325951.4:p.Pro270Thr
ENST00000324155.8:c.*497C>A	ENSP00000325831.3:n.*497C>A
ENST00000333684.9:c.696-371C>A	ENSP00000328814.6:n.696-371C>A
ENST00000352909.7:c.808C>A	ENSP00000325951.3:p.Pro270Thr
ENST00000381168.7:c.*528C>A	ENSP00000370560.3:n.*528C>A
ENST00000381175.5:c.889C>A	ENSP00000370567.1:p.Pro297Thr
ENST00000381178.5:c.901C>A	ENSP00000370571.1:p.Pro301Thr
ENST00000412076.1:c.136-371C>A
ENST00000416223.5:c.136-152C>A
ENST00000469226.1:n.937C>A
ENST00000479437.5:n.357C>A
NM_000360.3:c.808C>A	NP_000351.2:p.Pro270Thr
NM_199292.2:c.901C>A	NP_954986.2:p.Pro301Thr
NM_199293.2:c.889C>A	NP_954987.2:p.Pro297Thr
XM_011520335.1:c.820C>A	XP_011518637.1:p.Pro274Thr
XM_011520335.2:c.820C>A	XP_011518637.1:p.Pro274Thr
NM_000360.4:c.808C>A MANE Select	NP_000351.2:p.Pro270Thr
NM_199292.3:c.901C>A	NP_954986.2:p.Pro301Thr
NM_199293.3:c.889C>A	NP_954987.2:p.Pro297Thr