Canonical Allele Identifier: CA379126089

Gene: TH

Linked Data

• dbSNP Id: rs1254752061
• gnomAD v2: 11-2187863-G-A
• gnomAD v4: 11-2166633-G-A
• MyVariant Identifiers: chr11:g.2187863G>A (hg19) ; chr11:g.2166633G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166633G>A , CM000673.2:g.2166633G>A	GRCh38
NC_000011.9:g.2187863G>A , CM000673.1:g.2187863G>A	GRCh37
NC_000011.8:g.2144439G>A	NCBI36
NG_008128.1:g.10173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.977C>T MANE Select	ENSP00000325951.4:p.Pro326Leu
ENST00000324155.8:c.*666C>T	ENSP00000325831.3:n.*666C>T
ENST00000333684.9:c.696-84C>T	ENSP00000328814.6:n.696-84C>T
ENST00000352909.7:c.977C>T	ENSP00000325951.3:p.Pro326Leu
ENST00000381168.7:c.*697C>T	ENSP00000370560.3:n.*697C>T
ENST00000381175.5:c.1058C>T	ENSP00000370567.1:p.Pro353Leu
ENST00000381178.5:c.1070C>T	ENSP00000370571.1:p.Pro357Leu
ENST00000412076.1:c.136-84C>T
ENST00000416223.5:c.271C>T
ENST00000461172.1:n.142C>T
ENST00000479437.5:n.526C>T
NM_000360.3:c.977C>T	NP_000351.2:p.Pro326Leu
NM_199292.2:c.1070C>T	NP_954986.2:p.Pro357Leu
NM_199293.2:c.1058C>T	NP_954987.2:p.Pro353Leu
XM_011520335.1:c.989C>T	XP_011518637.1:p.Pro330Leu
XM_011520335.2:c.989C>T	XP_011518637.1:p.Pro330Leu
NM_000360.4:c.977C>T MANE Select	NP_000351.2:p.Pro326Leu
NM_199292.3:c.1070C>T	NP_954986.2:p.Pro357Leu
NM_199293.3:c.1058C>T	NP_954987.2:p.Pro353Leu