Canonical Allele Identifier: CA2611960851

Gene: TH

Linked Data

• gnomAD v4: 11-2166356-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166356A>G , CM000673.2:g.2166356A>G	GRCh38
NC_000011.9:g.2187586A>G , CM000673.1:g.2187586A>G	GRCh37
NC_000011.8:g.2144162A>G	NCBI36
NG_008128.1:g.10450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1047+124T>C MANE Select	ENSP00000325951.4:n.1047+124T>C
ENST00000324155.8:c.*736+124T>C	ENSP00000325831.3:n.*736+124T>C
ENST00000333684.9:c.765+124T>C	ENSP00000328814.6:n.765+124T>C
ENST00000352909.7:c.1047+124T>C	ENSP00000325951.3:n.1047+124T>C
ENST00000381168.7:c.*767+124T>C	ENSP00000370560.3:n.*767+124T>C
ENST00000381175.5:c.1128+124T>C	ENSP00000370567.1:n.1128+124T>C
ENST00000381178.5:c.1140+124T>C	ENSP00000370571.1:n.1140+124T>C
ENST00000412076.1:c.205+124T>C
ENST00000416223.5:c.341+124T>C
ENST00000461172.1:n.336T>C
ENST00000479437.5:n.596+124T>C
NM_000360.3:c.1047+124T>C	NP_000351.2:n.1047+124T>C
NM_199292.2:c.1140+124T>C	NP_954986.2:n.1140+124T>C
NM_199293.2:c.1128+124T>C	NP_954987.2:n.1128+124T>C
XM_011520335.1:c.1059+124T>C	XP_011518637.1:n.1059+124T>C
XM_011520335.2:c.1059+124T>C	XP_011518637.1:n.1059+124T>C
NM_000360.4:c.1047+124T>C MANE Select	NP_000351.2:n.1047+124T>C
NM_199292.3:c.1140+124T>C	NP_954986.2:n.1140+124T>C
NM_199293.3:c.1128+124T>C	NP_954987.2:n.1128+124T>C