Canonical Allele Identifier: CA379126090

Gene: TH

Linked Data

• dbSNP Id: rs1461126424
• gnomAD v2: 11-2187864-G-A
• gnomAD v4: 11-2166634-G-A
• MyVariant Identifiers: chr11:g.2187864G>A (hg19) ; chr11:g.2166634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166634G>A , CM000673.2:g.2166634G>A	GRCh38
NC_000011.9:g.2187864G>A , CM000673.1:g.2187864G>A	GRCh37
NC_000011.8:g.2144440G>A	NCBI36
NG_008128.1:g.10172C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.976C>T MANE Select	ENSP00000325951.4:p.Pro326Ser
ENST00000324155.8:c.*665C>T	ENSP00000325831.3:n.*665C>T
ENST00000333684.9:c.696-85C>T	ENSP00000328814.6:n.696-85C>T
ENST00000352909.7:c.976C>T	ENSP00000325951.3:p.Pro326Ser
ENST00000381168.7:c.*696C>T	ENSP00000370560.3:n.*696C>T
ENST00000381175.5:c.1057C>T	ENSP00000370567.1:p.Pro353Ser
ENST00000381178.5:c.1069C>T	ENSP00000370571.1:p.Pro357Ser
ENST00000412076.1:c.136-85C>T
ENST00000416223.5:c.270C>T
ENST00000461172.1:n.141C>T
ENST00000479437.5:n.525C>T
NM_000360.3:c.976C>T	NP_000351.2:p.Pro326Ser
NM_199292.2:c.1069C>T	NP_954986.2:p.Pro357Ser
NM_199293.2:c.1057C>T	NP_954987.2:p.Pro353Ser
XM_011520335.1:c.988C>T	XP_011518637.1:p.Pro330Ser
XM_011520335.2:c.988C>T	XP_011518637.1:p.Pro330Ser
NM_000360.4:c.976C>T MANE Select	NP_000351.2:p.Pro326Ser
NM_199292.3:c.1069C>T	NP_954986.2:p.Pro357Ser
NM_199293.3:c.1057C>T	NP_954987.2:p.Pro353Ser