Canonical Allele Identifier: CA472033874

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2186527T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165297T>C , CM000673.2:g.2165297T>C	GRCh38
NC_000011.9:g.2186527T>C , CM000673.1:g.2186527T>C	GRCh37
NC_000011.8:g.2143103T>C	NCBI36
NG_007114.1:g.898A>G
NG_008128.1:g.11509A>G
NG_050578.1:g.913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1269A>G MANE Select	ENSP00000325951.4:p.Gln423=
ENST00000324155.8:c.*958A>G	ENSP00000325831.3:n.*958A>G
ENST00000333684.9:c.987A>G	ENSP00000328814.6:p.Gln329=
ENST00000352909.7:c.1269A>G	ENSP00000325951.3:p.Gln423=
ENST00000381175.5:c.1350A>G	ENSP00000370567.1:p.Gln450=
ENST00000381178.5:c.1362A>G	ENSP00000370571.1:p.Gln454=
NM_000360.3:c.1269A>G	NP_000351.2:p.Gln423=
NM_199292.2:c.1362A>G	NP_954986.2:p.Gln454=
NM_199293.2:c.1350A>G	NP_954987.2:p.Gln450=
XM_011520335.1:c.1281A>G	XP_011518637.1:p.Gln427=
XM_011520335.2:c.1281A>G	XP_011518637.1:p.Gln427=
NM_000360.4:c.1269A>G MANE Select	NP_000351.2:p.Gln423=
NM_199292.3:c.1362A>G	NP_954986.2:p.Gln454=
NM_199293.3:c.1350A>G	NP_954987.2:p.Gln450=