Canonical Allele Identifier: CA2611979249

Gene: TH

Linked Data

• gnomAD v4: 11-2169571-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169571T>G , CM000673.2:g.2169571T>G	GRCh38
NC_000011.9:g.2190801T>G , CM000673.1:g.2190801T>G	GRCh37
NC_000011.8:g.2147377T>G	NCBI36
NG_008128.1:g.7235A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.312+79A>C MANE Select	ENSP00000325951.4:n.312+79A>C
ENST00000324155.8:c.*1+79A>C	ENSP00000325831.3:n.*1+79A>C
ENST00000333684.9:c.312+79A>C	ENSP00000328814.6:n.312+79A>C
ENST00000352909.7:c.312+79A>C	ENSP00000325951.3:n.312+79A>C
ENST00000381168.7:c.*1+79A>C	ENSP00000370560.3:n.*1+79A>C
ENST00000381175.5:c.393+79A>C	ENSP00000370567.1:n.393+79A>C
ENST00000381178.5:c.405+79A>C	ENSP00000370571.1:n.405+79A>C
NM_000360.3:c.312+79A>C	NP_000351.2:n.312+79A>C
NM_199292.2:c.405+79A>C	NP_954986.2:n.405+79A>C
NM_199293.2:c.393+79A>C	NP_954987.2:n.393+79A>C
XM_011520335.1:c.324+79A>C	XP_011518637.1:n.324+79A>C
XM_011520335.2:c.324+79A>C	XP_011518637.1:n.324+79A>C
NM_000360.4:c.312+79A>C MANE Select	NP_000351.2:n.312+79A>C
NM_199292.3:c.405+79A>C	NP_954986.2:n.405+79A>C
NM_199293.3:c.393+79A>C	NP_954987.2:n.393+79A>C