Canonical Allele Identifier: CA216283072

Gene: TH

Linked Data

• dbSNP Id: rs1018730533
• gnomAD v2: 11-2186653-G-A
• gnomAD v3: 11-2165423-G-A
• gnomAD v4: 11-2165423-G-A
• MyVariant Identifiers: chr11:g.2186653G>A (hg19) ; chr11:g.2165423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165423G>A , CM000673.2:g.2165423G>A	GRCh38
NC_000011.9:g.2186653G>A , CM000673.1:g.2186653G>A	GRCh37
NC_000011.8:g.2143229G>A	NCBI36
NG_007114.1:g.772C>T
NG_008128.1:g.11383C>T
NG_050578.1:g.787C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1201-58C>T MANE Select	ENSP00000325951.4:n.1201-58C>T
ENST00000324155.8:c.*890-58C>T	ENSP00000325831.3:n.*890-58C>T
ENST00000333684.9:c.919-58C>T	ENSP00000328814.6:n.919-58C>T
ENST00000352909.7:c.1201-58C>T	ENSP00000325951.3:n.1201-58C>T
ENST00000381175.5:c.1282-58C>T	ENSP00000370567.1:n.1282-58C>T
ENST00000381178.5:c.1294-58C>T	ENSP00000370571.1:n.1294-58C>T
NM_000360.3:c.1201-58C>T	NP_000351.2:n.1201-58C>T
NM_199292.2:c.1294-58C>T	NP_954986.2:n.1294-58C>T
NM_199293.2:c.1282-58C>T	NP_954987.2:n.1282-58C>T
XM_011520335.1:c.1213-58C>T	XP_011518637.1:n.1213-58C>T
XM_011520335.2:c.1213-58C>T	XP_011518637.1:n.1213-58C>T
NM_000360.4:c.1201-58C>T MANE Select	NP_000351.2:n.1201-58C>T
NM_199292.3:c.1294-58C>T	NP_954986.2:n.1294-58C>T
NM_199293.3:c.1282-58C>T	NP_954987.2:n.1282-58C>T