Canonical Allele Identifier: CA379123881

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2185464T>G (hg19) ; chr11:g.2164234T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2164234T>G , CM000673.2:g.2164234T>G	GRCh38
NC_000011.9:g.2185464T>G , CM000673.1:g.2185464T>G	GRCh37
NC_000011.8:g.2142040T>G	NCBI36
NG_007114.1:g.1961A>C
NG_008128.1:g.12572A>C
NG_050578.1:g.1976A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1493A>C MANE Select	ENSP00000325951.4:p.Ter498Ser
ENST00000333684.9:c.1211A>C	ENSP00000328814.6:p.Ter404Ser
ENST00000352909.7:c.1493A>C	ENSP00000325951.3:p.Ter498Ser
ENST00000381175.5:c.1574A>C	ENSP00000370567.1:p.Ter525Ser
ENST00000381178.5:c.1586A>C	ENSP00000370571.1:p.Ter529Ser
NM_000360.3:c.1493A>C	NP_000351.2:p.Ter498Ser
NM_199292.2:c.1586A>C	NP_954986.2:p.Ter529Ser
NM_199293.2:c.1574A>C	NP_954987.2:p.Ter525Ser
XM_011520335.1:c.1505A>C	XP_011518637.1:p.Ter502Ser
XM_011520335.2:c.1505A>C	XP_011518637.1:p.Ter502Ser
NM_000360.4:c.1493A>C MANE Select	NP_000351.2:p.Ter498Ser
NM_199292.3:c.1586A>C	NP_954986.2:p.Ter529Ser
NM_199293.3:c.1574A>C	NP_954987.2:p.Ter525Ser