Canonical Allele Identifier: CA379112338

Gene: TH

Linked Data

• dbSNP Id: rs752445432
• gnomAD v2: 11-2190992-G-T
• gnomAD v3: 11-2169762-G-T
• gnomAD v4: 11-2169762-G-T
• MyVariant Identifiers: chr11:g.2190992G>T (hg19) ; chr11:g.2169762G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169762G>T , CM000673.2:g.2169762G>T	GRCh38
NC_000011.9:g.2190992G>T , CM000673.1:g.2190992G>T	GRCh37
NC_000011.8:g.2147568G>T	NCBI36
NG_008128.1:g.7044C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.200C>A MANE Select	ENSP00000325951.4:p.Pro67His
ENST00000324155.8:c.91-67C>A	ENSP00000325831.3:n.91-67C>A
ENST00000333684.9:c.200C>A	ENSP00000328814.6:p.Pro67His
ENST00000352909.7:c.200C>A	ENSP00000325951.3:p.Pro67His
ENST00000381168.7:c.103-67C>A	ENSP00000370560.3:n.103-67C>A
ENST00000381175.5:c.281C>A	ENSP00000370567.1:p.Pro94His
ENST00000381178.5:c.293C>A	ENSP00000370571.1:p.Pro98His
NM_000360.3:c.200C>A	NP_000351.2:p.Pro67His
NM_199292.2:c.293C>A	NP_954986.2:p.Pro98His
NM_199293.2:c.281C>A	NP_954987.2:p.Pro94His
XM_011520335.1:c.212C>A	XP_011518637.1:p.Pro71His
XM_011520335.2:c.212C>A	XP_011518637.1:p.Pro71His
NM_000360.4:c.200C>A MANE Select	NP_000351.2:p.Pro67His
NM_199292.3:c.293C>A	NP_954986.2:p.Pro98His
NM_199293.3:c.281C>A	NP_954987.2:p.Pro94His