Canonical Allele Identifier: CA379126091

Gene: TH

Linked Data

• gnomAD v4: 11-2166634-G-C
• MyVariant Identifiers: chr11:g.2187864G>C (hg19) ; chr11:g.2166634G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.976C>G MANE Select	ENSP00000325951.4:p.Pro326Ala
ENST00000324155.8:c.*665C>G	ENSP00000325831.3:n.*665C>G
ENST00000333684.9:c.696-85C>G	ENSP00000328814.6:n.696-85C>G
ENST00000352909.7:c.976C>G	ENSP00000325951.3:p.Pro326Ala
ENST00000381168.7:c.*696C>G	ENSP00000370560.3:n.*696C>G
ENST00000381175.5:c.1057C>G	ENSP00000370567.1:p.Pro353Ala
ENST00000381178.5:c.1069C>G	ENSP00000370571.1:p.Pro357Ala
ENST00000412076.1:c.136-85C>G
ENST00000416223.5:c.270C>G
ENST00000461172.1:n.141C>G
ENST00000479437.5:n.525C>G
NM_000360.3:c.976C>G	NP_000351.2:p.Pro326Ala
NM_199292.2:c.1069C>G	NP_954986.2:p.Pro357Ala
NM_199293.2:c.1057C>G	NP_954987.2:p.Pro353Ala
XM_011520335.1:c.988C>G	XP_011518637.1:p.Pro330Ala
XM_011520335.2:c.988C>G	XP_011518637.1:p.Pro330Ala
NM_000360.4:c.976C>G MANE Select	NP_000351.2:p.Pro326Ala
NM_199292.3:c.1069C>G	NP_954986.2:p.Pro357Ala
NM_199293.3:c.1057C>G	NP_954987.2:p.Pro353Ala