Canonical Allele Identifier: CA379126247

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187936T>A (hg19) ; chr11:g.2166706T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166706T>A , CM000673.2:g.2166706T>A	GRCh38
NC_000011.9:g.2187936T>A , CM000673.1:g.2187936T>A	GRCh37
NC_000011.8:g.2144512T>A	NCBI36
NG_008128.1:g.10100A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.904A>T MANE Select	ENSP00000325951.4:p.Ser302Cys
ENST00000324155.8:c.*593A>T	ENSP00000325831.3:n.*593A>T
ENST00000333684.9:c.696-157A>T	ENSP00000328814.6:n.696-157A>T
ENST00000352909.7:c.904A>T	ENSP00000325951.3:p.Ser302Cys
ENST00000381168.7:c.*624A>T	ENSP00000370560.3:n.*624A>T
ENST00000381175.5:c.985A>T	ENSP00000370567.1:p.Ser329Cys
ENST00000381178.5:c.997A>T	ENSP00000370571.1:p.Ser333Cys
ENST00000412076.1:c.136-157A>T
ENST00000416223.5:c.198A>T
ENST00000461172.1:n.69A>T
ENST00000479437.5:n.453A>T
NM_000360.3:c.904A>T	NP_000351.2:p.Ser302Cys
NM_199292.2:c.997A>T	NP_954986.2:p.Ser333Cys
NM_199293.2:c.985A>T	NP_954987.2:p.Ser329Cys
XM_011520335.1:c.916A>T	XP_011518637.1:p.Ser306Cys
XM_011520335.2:c.916A>T	XP_011518637.1:p.Ser306Cys
NM_000360.4:c.904A>T MANE Select	NP_000351.2:p.Ser302Cys
NM_199292.3:c.997A>T	NP_954986.2:p.Ser333Cys
NM_199293.3:c.985A>T	NP_954987.2:p.Ser329Cys