Canonical Allele Identifier: CA1948012152

Gene: TH

Linked Data

• dbSNP Id: rs1590173808

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171799A>G , CM000673.2:g.2171799A>G	GRCh38
NC_000011.9:g.2193029A>G , CM000673.1:g.2193029A>G	GRCh37
NC_000011.8:g.2149605A>G	NCBI36
NG_008128.1:g.5007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.-13T>C MANE Select	ENSP00000325951.4:n.-13T>C
ENST00000324155.8:c.-13T>C	ENSP00000325831.3:n.-13T>C
ENST00000333684.9:c.-13T>C	ENSP00000328814.6:n.-13T>C
ENST00000352909.7:c.-13T>C	ENSP00000325951.3:n.-13T>C
ENST00000381168.7:c.-13T>C	ENSP00000370560.3:n.-13T>C
ENST00000381175.5:c.-13T>C	ENSP00000370567.1:n.-13T>C
ENST00000381178.5:c.-13T>C	ENSP00000370571.1:n.-13T>C
NM_000360.3:c.-13T>C	NP_000351.2:n.-13T>C
NM_199292.2:c.-13T>C	NP_954986.2:n.-13T>C
NM_199293.2:c.-13T>C	NP_954987.2:n.-13T>C
XM_011520335.1:c.-13T>C	XP_011518637.1:n.-13T>C
XM_011520335.2:c.-13T>C	XP_011518637.1:n.-13T>C
NM_000360.4:c.-13T>C MANE Select	NP_000351.2:n.-13T>C
NM_199292.3:c.-13T>C	NP_954986.2:n.-13T>C
NM_199293.3:c.-13T>C	NP_954987.2:n.-13T>C