Canonical Allele Identifier: CA379112749

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2192925A>G (hg19) ; chr11:g.2171695A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171695A>G , CM000673.2:g.2171695A>G	GRCh38
NC_000011.9:g.2192925A>G , CM000673.1:g.2192925A>G	GRCh37
NC_000011.8:g.2149501A>G	NCBI36
NG_008128.1:g.5111T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.90+2T>C MANE Select	ENSP00000325951.4:n.90+2T>C
ENST00000324155.8:c.90+2T>C	ENSP00000325831.3:n.90+2T>C
ENST00000333684.9:c.90+2T>C	ENSP00000328814.6:n.90+2T>C
ENST00000352909.7:c.90+2T>C	ENSP00000325951.3:n.90+2T>C
ENST00000381168.7:c.92T>C	ENSP00000370560.3:p.Val31Ala
ENST00000381175.5:c.90+2T>C	ENSP00000370567.1:n.90+2T>C
ENST00000381178.5:c.92T>C	ENSP00000370571.1:p.Val31Ala
NM_000360.3:c.90+2T>C	NP_000351.2:n.90+2T>C
NM_199292.2:c.92T>C	NP_954986.2:p.Val31Ala
NM_199293.2:c.90+2T>C	NP_954987.2:n.90+2T>C
XM_011520335.1:c.92T>C	XP_011518637.1:p.Val31Ala
XM_011520335.2:c.92T>C	XP_011518637.1:p.Val31Ala
NM_000360.4:c.90+2T>C MANE Select	NP_000351.2:n.90+2T>C
NM_199292.3:c.92T>C	NP_954986.2:p.Val31Ala
NM_199293.3:c.90+2T>C	NP_954987.2:n.90+2T>C