Canonical Allele Identifier: CA472033986

Gene: TH

Linked Data

• ClinVar Variation Id: 2906151
• ClinVar RCV Id: RCV003624394
• MyVariant Identifiers: chr11:g.2186587C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165357C>G , CM000673.2:g.2165357C>G	GRCh38
NC_000011.9:g.2186587C>G , CM000673.1:g.2186587C>G	GRCh37
NC_000011.8:g.2143163C>G	NCBI36
NG_007114.1:g.838G>C
NG_008128.1:g.11449G>C
NG_050578.1:g.853G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1209G>C MANE Select	ENSP00000325951.4:p.Leu403=
ENST00000324155.8:c.*898G>C	ENSP00000325831.3:n.*898G>C
ENST00000333684.9:c.927G>C	ENSP00000328814.6:p.Leu309=
ENST00000352909.7:c.1209G>C	ENSP00000325951.3:p.Leu403=
ENST00000381175.5:c.1290G>C	ENSP00000370567.1:p.Leu430=
ENST00000381178.5:c.1302G>C	ENSP00000370571.1:p.Leu434=
NM_000360.3:c.1209G>C	NP_000351.2:p.Leu403=
NM_199292.2:c.1302G>C	NP_954986.2:p.Leu434=
NM_199293.2:c.1290G>C	NP_954987.2:p.Leu430=
XM_011520335.1:c.1221G>C	XP_011518637.1:p.Leu407=
XM_011520335.2:c.1221G>C	XP_011518637.1:p.Leu407=
NM_000360.4:c.1209G>C MANE Select	NP_000351.2:p.Leu403=
NM_199292.3:c.1302G>C	NP_954986.2:p.Leu434=
NM_199293.3:c.1290G>C	NP_954987.2:p.Leu430=