Canonical Allele Identifier: CA472019172

Gene: TH

Linked Data

• ClinVar Variation Id: 2907685
• ClinVar RCV Id: RCV003624899
• gnomAD v4: 11-2171781-G-A
• MyVariant Identifiers: chr11:g.2193011G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171781G>A , CM000673.2:g.2171781G>A	GRCh38
NC_000011.9:g.2193011G>A , CM000673.1:g.2193011G>A	GRCh37
NC_000011.8:g.2149587G>A	NCBI36
NG_008128.1:g.5025C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.6C>T MANE Select	ENSP00000325951.4:p.Pro2=
ENST00000324155.8:c.6C>T	ENSP00000325831.3:p.Pro2=
ENST00000333684.9:c.6C>T	ENSP00000328814.6:p.Pro2=
ENST00000352909.7:c.6C>T	ENSP00000325951.3:p.Pro2=
ENST00000381168.7:c.6C>T	ENSP00000370560.3:p.Pro2=
ENST00000381175.5:c.6C>T	ENSP00000370567.1:p.Pro2=
ENST00000381178.5:c.6C>T	ENSP00000370571.1:p.Pro2=
NM_000360.3:c.6C>T	NP_000351.2:p.Pro2=
NM_199292.2:c.6C>T	NP_954986.2:p.Pro2=
NM_199293.2:c.6C>T	NP_954987.2:p.Pro2=
XM_011520335.1:c.6C>T	XP_011518637.1:p.Pro2=
XM_011520335.2:c.6C>T	XP_011518637.1:p.Pro2=
NM_000360.4:c.6C>T MANE Select	NP_000351.2:p.Pro2=
NM_199292.3:c.6C>T	NP_954986.2:p.Pro2=
NM_199293.3:c.6C>T	NP_954987.2:p.Pro2=