Canonical Allele Identifier: CA379126649

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188156T>A (hg19) ; chr11:g.2166926T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166926T>A , CM000673.2:g.2166926T>A	GRCh38
NC_000011.9:g.2188156T>A , CM000673.1:g.2188156T>A	GRCh37
NC_000011.8:g.2144732T>A	NCBI36
NG_008128.1:g.9880A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.802A>T MANE Select	ENSP00000325951.4:p.Asn268Tyr
ENST00000324155.8:c.*491A>T	ENSP00000325831.3:n.*491A>T
ENST00000333684.9:c.696-377A>T	ENSP00000328814.6:n.696-377A>T
ENST00000352909.7:c.802A>T	ENSP00000325951.3:p.Asn268Tyr
ENST00000381168.7:c.*522A>T	ENSP00000370560.3:n.*522A>T
ENST00000381175.5:c.883A>T	ENSP00000370567.1:p.Asn295Tyr
ENST00000381178.5:c.895A>T	ENSP00000370571.1:p.Asn299Tyr
ENST00000412076.1:c.136-377A>T
ENST00000416223.5:c.136-158A>T
ENST00000469226.1:n.931A>T
ENST00000479437.5:n.351A>T
NM_000360.3:c.802A>T	NP_000351.2:p.Asn268Tyr
NM_199292.2:c.895A>T	NP_954986.2:p.Asn299Tyr
NM_199293.2:c.883A>T	NP_954987.2:p.Asn295Tyr
XM_011520335.1:c.814A>T	XP_011518637.1:p.Asn272Tyr
XM_011520335.2:c.814A>T	XP_011518637.1:p.Asn272Tyr
NM_000360.4:c.802A>T MANE Select	NP_000351.2:p.Asn268Tyr
NM_199292.3:c.895A>T	NP_954986.2:p.Asn299Tyr
NM_199293.3:c.883A>T	NP_954987.2:p.Asn295Tyr