Canonical Allele Identifier: CA379126948

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2188215C>G (hg19) ; chr11:g.2166985C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166985C>G , CM000673.2:g.2166985C>G	GRCh38
NC_000011.9:g.2188215C>G , CM000673.1:g.2188215C>G	GRCh37
NC_000011.8:g.2144791C>G	NCBI36
NG_008128.1:g.9821G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.743G>C MANE Select	ENSP00000325951.4:p.Cys248Ser
ENST00000324155.8:c.*432G>C	ENSP00000325831.3:n.*432G>C
ENST00000333684.9:c.696-436G>C	ENSP00000328814.6:n.696-436G>C
ENST00000352909.7:c.743G>C	ENSP00000325951.3:p.Cys248Ser
ENST00000381168.7:c.*463G>C	ENSP00000370560.3:n.*463G>C
ENST00000381175.5:c.824G>C	ENSP00000370567.1:p.Cys275Ser
ENST00000381178.5:c.836G>C	ENSP00000370571.1:p.Cys279Ser
ENST00000412076.1:c.136-436G>C
ENST00000416223.5:c.136-217G>C
ENST00000469226.1:n.872G>C
ENST00000479437.5:n.292G>C
NM_000360.3:c.743G>C	NP_000351.2:p.Cys248Ser
NM_199292.2:c.836G>C	NP_954986.2:p.Cys279Ser
NM_199293.2:c.824G>C	NP_954987.2:p.Cys275Ser
XM_011520335.1:c.755G>C	XP_011518637.1:p.Cys252Ser
XM_011520335.2:c.755G>C	XP_011518637.1:p.Cys252Ser
NM_000360.4:c.743G>C MANE Select	NP_000351.2:p.Cys248Ser
NM_199292.3:c.836G>C	NP_954986.2:p.Cys279Ser
NM_199293.3:c.824G>C	NP_954987.2:p.Cys275Ser