Canonical Allele Identifier: CA379126294

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187959A>G (hg19) ; chr11:g.2166729A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166729A>G , CM000673.2:g.2166729A>G	GRCh38
NC_000011.9:g.2187959A>G , CM000673.1:g.2187959A>G	GRCh37
NC_000011.8:g.2144535A>G	NCBI36
NG_008128.1:g.10077T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.881T>C MANE Select	ENSP00000325951.4:p.Leu294Pro
ENST00000324155.8:c.*570T>C	ENSP00000325831.3:n.*570T>C
ENST00000333684.9:c.696-180T>C	ENSP00000328814.6:n.696-180T>C
ENST00000352909.7:c.881T>C	ENSP00000325951.3:p.Leu294Pro
ENST00000381168.7:c.*601T>C	ENSP00000370560.3:n.*601T>C
ENST00000381175.5:c.962T>C	ENSP00000370567.1:p.Leu321Pro
ENST00000381178.5:c.974T>C	ENSP00000370571.1:p.Leu325Pro
ENST00000412076.1:c.136-180T>C
ENST00000416223.5:c.175T>C
ENST00000461172.1:n.46T>C
ENST00000479437.5:n.430T>C
NM_000360.3:c.881T>C	NP_000351.2:p.Leu294Pro
NM_199292.2:c.974T>C	NP_954986.2:p.Leu325Pro
NM_199293.2:c.962T>C	NP_954987.2:p.Leu321Pro
XM_011520335.1:c.893T>C	XP_011518637.1:p.Leu298Pro
XM_011520335.2:c.893T>C	XP_011518637.1:p.Leu298Pro
NM_000360.4:c.881T>C MANE Select	NP_000351.2:p.Leu294Pro
NM_199292.3:c.974T>C	NP_954986.2:p.Leu325Pro
NM_199293.3:c.962T>C	NP_954987.2:p.Leu321Pro