Canonical Allele Identifier: CA379126052

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187770G>C (hg19) ; chr11:g.2166540G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166540G>C , CM000673.2:g.2166540G>C	GRCh38
NC_000011.9:g.2187770G>C , CM000673.1:g.2187770G>C	GRCh37
NC_000011.8:g.2144346G>C	NCBI36
NG_008128.1:g.10266C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.987C>G MANE Select	ENSP00000325951.4:p.Cys329Trp
ENST00000324155.8:c.*676C>G	ENSP00000325831.3:n.*676C>G
ENST00000333684.9:c.705C>G	ENSP00000328814.6:p.Cys235Trp
ENST00000352909.7:c.987C>G	ENSP00000325951.3:p.Cys329Trp
ENST00000381168.7:c.*707C>G	ENSP00000370560.3:n.*707C>G
ENST00000381175.5:c.1068C>G	ENSP00000370567.1:p.Cys356Trp
ENST00000381178.5:c.1080C>G	ENSP00000370571.1:p.Cys360Trp
ENST00000412076.1:c.145C>G
ENST00000416223.5:c.281C>G
ENST00000461172.1:n.152C>G
ENST00000479437.5:n.536C>G
NM_000360.3:c.987C>G	NP_000351.2:p.Cys329Trp
NM_199292.2:c.1080C>G	NP_954986.2:p.Cys360Trp
NM_199293.2:c.1068C>G	NP_954987.2:p.Cys356Trp
XM_011520335.1:c.999C>G	XP_011518637.1:p.Cys333Trp
XM_011520335.2:c.999C>G	XP_011518637.1:p.Cys333Trp
NM_000360.4:c.987C>G MANE Select	NP_000351.2:p.Cys329Trp
NM_199292.3:c.1080C>G	NP_954986.2:p.Cys360Trp
NM_199293.3:c.1068C>G	NP_954987.2:p.Cys356Trp