Canonical Allele Identifier: CA379112751

Gene: TH

Linked Data

• ClinVar Variation Id: 551572
• ClinVar RCV Id: RCV000666669
• dbSNP Id: rs1554924329
• MyVariant Identifiers: chr11:g.2192926C>A (hg19) ; chr11:g.2171696C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171696C>A , CM000673.2:g.2171696C>A	GRCh38
NC_000011.9:g.2192926C>A , CM000673.1:g.2192926C>A	GRCh37
NC_000011.8:g.2149502C>A	NCBI36
NG_008128.1:g.5110G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.90+1G>T MANE Select	ENSP00000325951.4:n.90+1G>T
ENST00000324155.8:c.90+1G>T	ENSP00000325831.3:n.90+1G>T
ENST00000333684.9:c.90+1G>T	ENSP00000328814.6:n.90+1G>T
ENST00000352909.7:c.90+1G>T	ENSP00000325951.3:n.90+1G>T
ENST00000381168.7:c.91G>T	ENSP00000370560.3:p.Val31Leu
ENST00000381175.5:c.90+1G>T	ENSP00000370567.1:n.90+1G>T
ENST00000381178.5:c.91G>T	ENSP00000370571.1:p.Val31Leu
NM_000360.3:c.90+1G>T	NP_000351.2:n.90+1G>T
NM_199292.2:c.91G>T	NP_954986.2:p.Val31Leu
NM_199293.2:c.90+1G>T	NP_954987.2:n.90+1G>T
XM_011520335.1:c.91G>T	XP_011518637.1:p.Val31Leu
XM_011520335.2:c.91G>T	XP_011518637.1:p.Val31Leu
NM_000360.4:c.90+1G>T MANE Select	NP_000351.2:n.90+1G>T
NM_199292.3:c.91G>T	NP_954986.2:p.Val31Leu
NM_199293.3:c.90+1G>T	NP_954987.2:n.90+1G>T