Canonical Allele Identifier: CA379126925

Gene: TH

Linked Data

• gnomAD v4: 11-2166980-C-A
• COSMIC: COSM395441
• MyVariant Identifiers: chr11:g.2188210C>A (hg19) ; chr11:g.2166980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166980C>A , CM000673.2:g.2166980C>A	GRCh38
NC_000011.9:g.2188210C>A , CM000673.1:g.2188210C>A	GRCh37
NC_000011.8:g.2144786C>A	NCBI36
NG_008128.1:g.9826G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.748G>T MANE Select	ENSP00000325951.4:p.Glu250Ter
ENST00000324155.8:c.*437G>T	ENSP00000325831.3:n.*437G>T
ENST00000333684.9:c.696-431G>T	ENSP00000328814.6:n.696-431G>T
ENST00000352909.7:c.748G>T	ENSP00000325951.3:p.Glu250Ter
ENST00000381168.7:c.*468G>T	ENSP00000370560.3:n.*468G>T
ENST00000381175.5:c.829G>T	ENSP00000370567.1:p.Glu277Ter
ENST00000381178.5:c.841G>T	ENSP00000370571.1:p.Glu281Ter
ENST00000412076.1:c.136-431G>T
ENST00000416223.5:c.136-212G>T
ENST00000469226.1:n.877G>T
ENST00000479437.5:n.297G>T
NM_000360.3:c.748G>T	NP_000351.2:p.Glu250Ter
NM_199292.2:c.841G>T	NP_954986.2:p.Glu281Ter
NM_199293.2:c.829G>T	NP_954987.2:p.Glu277Ter
XM_011520335.1:c.760G>T	XP_011518637.1:p.Glu254Ter
XM_011520335.2:c.760G>T	XP_011518637.1:p.Glu254Ter
NM_000360.4:c.748G>T MANE Select	NP_000351.2:p.Glu250Ter
NM_199292.3:c.841G>T	NP_954986.2:p.Glu281Ter
NM_199293.3:c.829G>T	NP_954987.2:p.Glu277Ter