Canonical Allele Identifier: CA472413903

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187746G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166516G>C , CM000673.2:g.2166516G>C	GRCh38
NC_000011.9:g.2187746G>C , CM000673.1:g.2187746G>C	GRCh37
NC_000011.8:g.2144322G>C	NCBI36
NG_008128.1:g.10290C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1011C>G MANE Select	ENSP00000325951.4:p.Pro337=
ENST00000324155.8:c.*700C>G	ENSP00000325831.3:n.*700C>G
ENST00000333684.9:c.729C>G	ENSP00000328814.6:p.Pro243=
ENST00000352909.7:c.1011C>G	ENSP00000325951.3:p.Pro337=
ENST00000381168.7:c.*731C>G	ENSP00000370560.3:n.*731C>G
ENST00000381175.5:c.1092C>G	ENSP00000370567.1:p.Pro364=
ENST00000381178.5:c.1104C>G	ENSP00000370571.1:p.Pro368=
ENST00000412076.1:c.169C>G
ENST00000416223.5:c.305C>G
ENST00000461172.1:n.176C>G
ENST00000479437.5:n.560C>G
NM_000360.3:c.1011C>G	NP_000351.2:p.Pro337=
NM_199292.2:c.1104C>G	NP_954986.2:p.Pro368=
NM_199293.2:c.1092C>G	NP_954987.2:p.Pro364=
XM_011520335.1:c.1023C>G	XP_011518637.1:p.Pro341=
XM_011520335.2:c.1023C>G	XP_011518637.1:p.Pro341=
NM_000360.4:c.1011C>G MANE Select	NP_000351.2:p.Pro337=
NM_199292.3:c.1104C>G	NP_954986.2:p.Pro368=
NM_199293.3:c.1092C>G	NP_954987.2:p.Pro364=