Canonical Allele Identifier: CA2611965273

Gene: TH

Linked Data

• gnomAD v4: 11-2167045-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167045A>G , CM000673.2:g.2167045A>G	GRCh38
NC_000011.9:g.2188275A>G , CM000673.1:g.2188275A>G	GRCh37
NC_000011.8:g.2144851A>G	NCBI36
NG_008128.1:g.9761T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-13T>C MANE Select	ENSP00000325951.4:n.696-13T>C
ENST00000324155.8:c.*385-13T>C	ENSP00000325831.3:n.*385-13T>C
ENST00000333684.9:c.695+390T>C	ENSP00000328814.6:n.695+390T>C
ENST00000352909.7:c.696-13T>C	ENSP00000325951.3:n.696-13T>C
ENST00000381168.7:c.*416-13T>C	ENSP00000370560.3:n.*416-13T>C
ENST00000381175.5:c.777-13T>C	ENSP00000370567.1:n.777-13T>C
ENST00000381178.5:c.789-13T>C	ENSP00000370571.1:n.789-13T>C
ENST00000412076.1:c.135+390T>C
ENST00000416223.5:c.136-277T>C
ENST00000469226.1:n.825-13T>C
ENST00000479437.5:n.232T>C
NM_000360.3:c.696-13T>C	NP_000351.2:n.696-13T>C
NM_199292.2:c.789-13T>C	NP_954986.2:n.789-13T>C
NM_199293.2:c.777-13T>C	NP_954987.2:n.777-13T>C
XM_011520335.1:c.708-13T>C	XP_011518637.1:n.708-13T>C
XM_011520335.2:c.708-13T>C	XP_011518637.1:n.708-13T>C
NM_000360.4:c.696-13T>C MANE Select	NP_000351.2:n.696-13T>C
NM_199292.3:c.789-13T>C	NP_954986.2:n.789-13T>C
NM_199293.3:c.777-13T>C	NP_954987.2:n.777-13T>C