Canonical Allele Identifier: CA216227492

Gene: TH

Linked Data

• dbSNP Id: rs1048554989
• gnomAD v2: 11-2190834-A-G
• gnomAD v3: 11-2169604-A-G
• gnomAD v4: 11-2169604-A-G
• MyVariant Identifiers: chr11:g.2190834A>G (hg19) ; chr11:g.2169604A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169604A>G , CM000673.2:g.2169604A>G	GRCh38
NC_000011.9:g.2190834A>G , CM000673.1:g.2190834A>G	GRCh37
NC_000011.8:g.2147410A>G	NCBI36
NG_008128.1:g.7202T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.312+46T>C MANE Select	ENSP00000325951.4:n.312+46T>C
ENST00000324155.8:c.*1+46T>C	ENSP00000325831.3:n.*1+46T>C
ENST00000333684.9:c.312+46T>C	ENSP00000328814.6:n.312+46T>C
ENST00000352909.7:c.312+46T>C	ENSP00000325951.3:n.312+46T>C
ENST00000381168.7:c.*1+46T>C	ENSP00000370560.3:n.*1+46T>C
ENST00000381175.5:c.393+46T>C	ENSP00000370567.1:n.393+46T>C
ENST00000381178.5:c.405+46T>C	ENSP00000370571.1:n.405+46T>C
NM_000360.3:c.312+46T>C	NP_000351.2:n.312+46T>C
NM_199292.2:c.405+46T>C	NP_954986.2:n.405+46T>C
NM_199293.2:c.393+46T>C	NP_954987.2:n.393+46T>C
XM_011520335.1:c.324+46T>C	XP_011518637.1:n.324+46T>C
XM_011520335.2:c.324+46T>C	XP_011518637.1:n.324+46T>C
NM_000360.4:c.312+46T>C MANE Select	NP_000351.2:n.312+46T>C
NM_199292.3:c.405+46T>C	NP_954986.2:n.405+46T>C
NM_199293.3:c.393+46T>C	NP_954987.2:n.393+46T>C