Canonical Allele Identifier: CA379125994

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187744A>C (hg19) ; chr11:g.2166514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166514A>C , CM000673.2:g.2166514A>C	GRCh38
NC_000011.9:g.2187744A>C , CM000673.1:g.2187744A>C	GRCh37
NC_000011.8:g.2144320A>C	NCBI36
NG_008128.1:g.10292T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1013T>G MANE Select	ENSP00000325951.4:p.Met338Arg
ENST00000324155.8:c.*702T>G	ENSP00000325831.3:n.*702T>G
ENST00000333684.9:c.731T>G	ENSP00000328814.6:p.Met244Arg
ENST00000352909.7:c.1013T>G	ENSP00000325951.3:p.Met338Arg
ENST00000381168.7:c.*733T>G	ENSP00000370560.3:n.*733T>G
ENST00000381175.5:c.1094T>G	ENSP00000370567.1:p.Met365Arg
ENST00000381178.5:c.1106T>G	ENSP00000370571.1:p.Met369Arg
ENST00000412076.1:c.171T>G
ENST00000416223.5:c.307T>G
ENST00000461172.1:n.178T>G
ENST00000479437.5:n.562T>G
NM_000360.3:c.1013T>G	NP_000351.2:p.Met338Arg
NM_199292.2:c.1106T>G	NP_954986.2:p.Met369Arg
NM_199293.2:c.1094T>G	NP_954987.2:p.Met365Arg
XM_011520335.1:c.1025T>G	XP_011518637.1:p.Met342Arg
XM_011520335.2:c.1025T>G	XP_011518637.1:p.Met342Arg
NM_000360.4:c.1013T>G MANE Select	NP_000351.2:p.Met338Arg
NM_199292.3:c.1106T>G	NP_954986.2:p.Met369Arg
NM_199293.3:c.1094T>G	NP_954987.2:p.Met365Arg