Canonical Allele Identifier: CA379125933

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187716G>C (hg19) ; chr11:g.2166486G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166486G>C , CM000673.2:g.2166486G>C	GRCh38
NC_000011.9:g.2187716G>C , CM000673.1:g.2187716G>C	GRCh37
NC_000011.8:g.2144292G>C	NCBI36
NG_008128.1:g.10320C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1041C>G MANE Select	ENSP00000325951.4:p.Phe347Leu
ENST00000324155.8:c.*730C>G	ENSP00000325831.3:n.*730C>G
ENST00000333684.9:c.759C>G	ENSP00000328814.6:p.Phe253Leu
ENST00000352909.7:c.1041C>G	ENSP00000325951.3:p.Phe347Leu
ENST00000381168.7:c.*761C>G	ENSP00000370560.3:n.*761C>G
ENST00000381175.5:c.1122C>G	ENSP00000370567.1:p.Phe374Leu
ENST00000381178.5:c.1134C>G	ENSP00000370571.1:p.Phe378Leu
ENST00000412076.1:c.199C>G
ENST00000416223.5:c.335C>G
ENST00000461172.1:n.206C>G
ENST00000479437.5:n.590C>G
NM_000360.3:c.1041C>G	NP_000351.2:p.Phe347Leu
NM_199292.2:c.1134C>G	NP_954986.2:p.Phe378Leu
NM_199293.2:c.1122C>G	NP_954987.2:p.Phe374Leu
XM_011520335.1:c.1053C>G	XP_011518637.1:p.Phe351Leu
XM_011520335.2:c.1053C>G	XP_011518637.1:p.Phe351Leu
NM_000360.4:c.1041C>G MANE Select	NP_000351.2:p.Phe347Leu
NM_199292.3:c.1134C>G	NP_954986.2:p.Phe378Leu
NM_199293.3:c.1122C>G	NP_954987.2:p.Phe374Leu