Canonical Allele Identifier: CA379112513

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2191078C>G (hg19) ; chr11:g.2169848C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169848C>G , CM000673.2:g.2169848C>G	GRCh38
NC_000011.9:g.2191078C>G , CM000673.1:g.2191078C>G	GRCh37
NC_000011.8:g.2147654C>G	NCBI36
NG_008128.1:g.6958G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.114G>C MANE Select	ENSP00000325951.4:p.Arg38Ser
ENST00000324155.8:c.91-153G>C	ENSP00000325831.3:n.91-153G>C
ENST00000333684.9:c.114G>C	ENSP00000328814.6:p.Arg38Ser
ENST00000352909.7:c.114G>C	ENSP00000325951.3:p.Arg38Ser
ENST00000381168.7:c.103-153G>C	ENSP00000370560.3:n.103-153G>C
ENST00000381175.5:c.195G>C	ENSP00000370567.1:p.Arg65Ser
ENST00000381178.5:c.207G>C	ENSP00000370571.1:p.Arg69Ser
NM_000360.3:c.114G>C	NP_000351.2:p.Arg38Ser
NM_199292.2:c.207G>C	NP_954986.2:p.Arg69Ser
NM_199293.2:c.195G>C	NP_954987.2:p.Arg65Ser
XM_011520335.1:c.126G>C	XP_011518637.1:p.Arg42Ser
XM_011520335.2:c.126G>C	XP_011518637.1:p.Arg42Ser
NM_000360.4:c.114G>C MANE Select	NP_000351.2:p.Arg38Ser
NM_199292.3:c.207G>C	NP_954986.2:p.Arg69Ser
NM_199293.3:c.195G>C	NP_954987.2:p.Arg65Ser