Canonical Allele Identifier: CA472034619

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187713C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166483C>G , CM000673.2:g.2166483C>G	GRCh38
NC_000011.9:g.2187713C>G , CM000673.1:g.2187713C>G	GRCh37
NC_000011.8:g.2144289C>G	NCBI36
NG_008128.1:g.10323G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1044G>C MANE Select	ENSP00000325951.4:p.Ser348=
ENST00000324155.8:c.*733G>C	ENSP00000325831.3:n.*733G>C
ENST00000333684.9:c.762G>C	ENSP00000328814.6:p.Ser254=
ENST00000352909.7:c.1044G>C	ENSP00000325951.3:p.Ser348=
ENST00000381168.7:c.*764G>C	ENSP00000370560.3:n.*764G>C
ENST00000381175.5:c.1125G>C	ENSP00000370567.1:p.Ser375=
ENST00000381178.5:c.1137G>C	ENSP00000370571.1:p.Ser379=
ENST00000412076.1:c.202G>C
ENST00000416223.5:c.338G>C
ENST00000461172.1:n.209G>C
ENST00000479437.5:n.593G>C
NM_000360.3:c.1044G>C	NP_000351.2:p.Ser348=
NM_199292.2:c.1137G>C	NP_954986.2:p.Ser379=
NM_199293.2:c.1125G>C	NP_954987.2:p.Ser375=
XM_011520335.1:c.1056G>C	XP_011518637.1:p.Ser352=
XM_011520335.2:c.1056G>C	XP_011518637.1:p.Ser352=
NM_000360.4:c.1044G>C MANE Select	NP_000351.2:p.Ser348=
NM_199292.3:c.1137G>C	NP_954986.2:p.Ser379=
NM_199293.3:c.1125G>C	NP_954987.2:p.Ser375=