Canonical Allele Identifier: CA379125967

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187730T>G (hg19) ; chr11:g.2166500T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166500T>G , CM000673.2:g.2166500T>G	GRCh38
NC_000011.9:g.2187730T>G , CM000673.1:g.2187730T>G	GRCh37
NC_000011.8:g.2144306T>G	NCBI36
NG_008128.1:g.10306A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1027A>C MANE Select	ENSP00000325951.4:p.Thr343Pro
ENST00000324155.8:c.*716A>C	ENSP00000325831.3:n.*716A>C
ENST00000333684.9:c.745A>C	ENSP00000328814.6:p.Thr249Pro
ENST00000352909.7:c.1027A>C	ENSP00000325951.3:p.Thr343Pro
ENST00000381168.7:c.*747A>C	ENSP00000370560.3:n.*747A>C
ENST00000381175.5:c.1108A>C	ENSP00000370567.1:p.Thr370Pro
ENST00000381178.5:c.1120A>C	ENSP00000370571.1:p.Thr374Pro
ENST00000412076.1:c.185A>C
ENST00000416223.5:c.321A>C
ENST00000461172.1:n.192A>C
ENST00000479437.5:n.576A>C
NM_000360.3:c.1027A>C	NP_000351.2:p.Thr343Pro
NM_199292.2:c.1120A>C	NP_954986.2:p.Thr374Pro
NM_199293.2:c.1108A>C	NP_954987.2:p.Thr370Pro
XM_011520335.1:c.1039A>C	XP_011518637.1:p.Thr347Pro
XM_011520335.2:c.1039A>C	XP_011518637.1:p.Thr347Pro
NM_000360.4:c.1027A>C MANE Select	NP_000351.2:p.Thr343Pro
NM_199292.3:c.1120A>C	NP_954986.2:p.Thr374Pro
NM_199293.3:c.1108A>C	NP_954987.2:p.Thr370Pro