Canonical Allele Identifier: CA379125067

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2186524G>C (hg19) ; chr11:g.2165294G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165294G>C , CM000673.2:g.2165294G>C	GRCh38
NC_000011.9:g.2186524G>C , CM000673.1:g.2186524G>C	GRCh37
NC_000011.8:g.2143100G>C	NCBI36
NG_007114.1:g.901C>G
NG_008128.1:g.11512C>G
NG_050578.1:g.916C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1272C>G MANE Select	ENSP00000325951.4:p.Asp424Glu
ENST00000324155.8:c.*961C>G	ENSP00000325831.3:n.*961C>G
ENST00000333684.9:c.990C>G	ENSP00000328814.6:p.Asp330Glu
ENST00000352909.7:c.1272C>G	ENSP00000325951.3:p.Asp424Glu
ENST00000381175.5:c.1353C>G	ENSP00000370567.1:p.Asp451Glu
ENST00000381178.5:c.1365C>G	ENSP00000370571.1:p.Asp455Glu
NM_000360.3:c.1272C>G	NP_000351.2:p.Asp424Glu
NM_199292.2:c.1365C>G	NP_954986.2:p.Asp455Glu
NM_199293.2:c.1353C>G	NP_954987.2:p.Asp451Glu
XM_011520335.1:c.1284C>G	XP_011518637.1:p.Asp428Glu
XM_011520335.2:c.1284C>G	XP_011518637.1:p.Asp428Glu
NM_000360.4:c.1272C>G MANE Select	NP_000351.2:p.Asp424Glu
NM_199292.3:c.1365C>G	NP_954986.2:p.Asp455Glu
NM_199293.3:c.1353C>G	NP_954987.2:p.Asp451Glu