Canonical Allele Identifier: CA5818895

Gene: TH

Linked Data

• ClinVar Variation Id: 304087
• ClinVar RCV Id: RCV000284550 ; RCV003221899
• dbSNP Id: rs139474171
• ExAC: 11:2193012 G / A
• gnomAD v2: 11-2193012-G-A
• gnomAD v3: 11-2171782-G-A
• gnomAD v4: 11-2171782-G-A
• MyVariant Identifiers: chr11:g.2193012G>A (hg19) ; chr11:g.2171782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171782G>A , CM000673.2:g.2171782G>A	GRCh38
NC_000011.9:g.2193012G>A , CM000673.1:g.2193012G>A	GRCh37
NC_000011.8:g.2149588G>A	NCBI36
NG_008128.1:g.5024C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.5C>T MANE Select	ENSP00000325951.4:p.Pro2Leu
ENST00000324155.8:c.5C>T	ENSP00000325831.3:p.Pro2Leu
ENST00000333684.9:c.5C>T	ENSP00000328814.6:p.Pro2Leu
ENST00000352909.7:c.5C>T	ENSP00000325951.3:p.Pro2Leu
ENST00000381168.7:c.5C>T	ENSP00000370560.3:p.Pro2Leu
ENST00000381175.5:c.5C>T	ENSP00000370567.1:p.Pro2Leu
ENST00000381178.5:c.5C>T	ENSP00000370571.1:p.Pro2Leu
NM_000360.3:c.5C>T	NP_000351.2:p.Pro2Leu
NM_199292.2:c.5C>T	NP_954986.2:p.Pro2Leu
NM_199293.2:c.5C>T	NP_954987.2:p.Pro2Leu
XM_011520335.1:c.5C>T	XP_011518637.1:p.Pro2Leu
XM_011520335.2:c.5C>T	XP_011518637.1:p.Pro2Leu
NM_000360.4:c.5C>T MANE Select	NP_000351.2:p.Pro2Leu
NM_199292.3:c.5C>T	NP_954986.2:p.Pro2Leu
NM_199293.3:c.5C>T	NP_954987.2:p.Pro2Leu