Canonical Allele Identifier: CA379125214

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2186553C>G (hg19) ; chr11:g.2165323C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165323C>G , CM000673.2:g.2165323C>G	GRCh38
NC_000011.9:g.2186553C>G , CM000673.1:g.2186553C>G	GRCh37
NC_000011.8:g.2143129C>G	NCBI36
NG_007114.1:g.872G>C
NG_008128.1:g.11483G>C
NG_050578.1:g.887G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1243G>C MANE Select	ENSP00000325951.4:p.Glu415Gln
ENST00000324155.8:c.*932G>C	ENSP00000325831.3:n.*932G>C
ENST00000333684.9:c.961G>C	ENSP00000328814.6:p.Glu321Gln
ENST00000352909.7:c.1243G>C	ENSP00000325951.3:p.Glu415Gln
ENST00000381175.5:c.1324G>C	ENSP00000370567.1:p.Glu442Gln
ENST00000381178.5:c.1336G>C	ENSP00000370571.1:p.Glu446Gln
NM_000360.3:c.1243G>C	NP_000351.2:p.Glu415Gln
NM_199292.2:c.1336G>C	NP_954986.2:p.Glu446Gln
NM_199293.2:c.1324G>C	NP_954987.2:p.Glu442Gln
XM_011520335.1:c.1255G>C	XP_011518637.1:p.Glu419Gln
XM_011520335.2:c.1255G>C	XP_011518637.1:p.Glu419Gln
NM_000360.4:c.1243G>C MANE Select	NP_000351.2:p.Glu415Gln
NM_199292.3:c.1336G>C	NP_954986.2:p.Glu446Gln
NM_199293.3:c.1324G>C	NP_954987.2:p.Glu442Gln