Canonical Allele Identifier: CA122131

Gene: TH

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165787A>T , CM000673.2:g.2165787A>T	GRCh38
NC_000011.9:g.2187017A>T , CM000673.1:g.2187017A>T	GRCh37
NC_000011.8:g.2143593A>T	NCBI36
NG_007114.1:g.408T>A
NG_008128.1:g.11019T>A
NG_050578.1:g.423T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1105-24T>A MANE Select	ENSP00000325951.4:n.1105-24T>A
ENST00000324155.8:c.*794-24T>A	ENSP00000325831.3:n.*794-24T>A
ENST00000333684.9:c.823-24T>A	ENSP00000328814.6:n.823-24T>A
ENST00000352909.7:c.1105-24T>A	ENSP00000325951.3:n.1105-24T>A
ENST00000381175.5:c.1186-24T>A	ENSP00000370567.1:n.1186-24T>A
ENST00000381178.5:c.1198-24T>A	ENSP00000370571.1:n.1198-24T>A
ENST00000412076.1:c.263-24T>A
ENST00000416223.5:c.399-24T>A
ENST00000479437.5:n.654-24T>A
NM_000360.3:c.1105-24T>A	NP_000351.2:n.1105-24T>A
NM_199292.2:c.1198-24T>A	NP_954986.2:n.1198-24T>A
NM_199293.2:c.1186-24T>A	NP_954987.2:n.1186-24T>A
XM_011520335.1:c.1117-24T>A	XP_011518637.1:n.1117-24T>A
XM_011520335.2:c.1117-24T>A	XP_011518637.1:n.1117-24T>A
NM_000360.4:c.1105-24T>A MANE Select	NP_000351.2:n.1105-24T>A
NM_199292.3:c.1198-24T>A	NP_954986.2:n.1198-24T>A
NM_199293.3:c.1186-24T>A	NP_954987.2:n.1186-24T>A