Canonical Allele Identifier: CA379112363

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2191005C>T (hg19) ; chr11:g.2169775C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169775C>T , CM000673.2:g.2169775C>T	GRCh38
NC_000011.9:g.2191005C>T , CM000673.1:g.2191005C>T	GRCh37
NC_000011.8:g.2147581C>T	NCBI36
NG_008128.1:g.7031G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.187G>A MANE Select	ENSP00000325951.4:p.Glu63Lys
ENST00000324155.8:c.91-80G>A	ENSP00000325831.3:n.91-80G>A
ENST00000333684.9:c.187G>A	ENSP00000328814.6:p.Glu63Lys
ENST00000352909.7:c.187G>A	ENSP00000325951.3:p.Glu63Lys
ENST00000381168.7:c.103-80G>A	ENSP00000370560.3:n.103-80G>A
ENST00000381175.5:c.268G>A	ENSP00000370567.1:p.Glu90Lys
ENST00000381178.5:c.280G>A	ENSP00000370571.1:p.Glu94Lys
NM_000360.3:c.187G>A	NP_000351.2:p.Glu63Lys
NM_199292.2:c.280G>A	NP_954986.2:p.Glu94Lys
NM_199293.2:c.268G>A	NP_954987.2:p.Glu90Lys
XM_011520335.1:c.199G>A	XP_011518637.1:p.Glu67Lys
XM_011520335.2:c.199G>A	XP_011518637.1:p.Glu67Lys
NM_000360.4:c.187G>A MANE Select	NP_000351.2:p.Glu63Lys
NM_199292.3:c.280G>A	NP_954986.2:p.Glu94Lys
NM_199293.3:c.268G>A	NP_954987.2:p.Glu90Lys