Canonical Allele Identifier: CA379112169

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2190906G>C (hg19) ; chr11:g.2169676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169676G>C , CM000673.2:g.2169676G>C	GRCh38
NC_000011.9:g.2190906G>C , CM000673.1:g.2190906G>C	GRCh37
NC_000011.8:g.2147482G>C	NCBI36
NG_008128.1:g.7130C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.286C>G MANE Select	ENSP00000325951.4:p.Leu96Val
ENST00000324155.8:c.110C>G	ENSP00000325831.3:p.Ala37Gly
ENST00000333684.9:c.286C>G	ENSP00000328814.6:p.Leu96Val
ENST00000352909.7:c.286C>G	ENSP00000325951.3:p.Leu96Val
ENST00000381168.7:c.122C>G	ENSP00000370560.3:p.Ala41Gly
ENST00000381175.5:c.367C>G	ENSP00000370567.1:p.Leu123Val
ENST00000381178.5:c.379C>G	ENSP00000370571.1:p.Leu127Val
NM_000360.3:c.286C>G	NP_000351.2:p.Leu96Val
NM_199292.2:c.379C>G	NP_954986.2:p.Leu127Val
NM_199293.2:c.367C>G	NP_954987.2:p.Leu123Val
XM_011520335.1:c.298C>G	XP_011518637.1:p.Leu100Val
XM_011520335.2:c.298C>G	XP_011518637.1:p.Leu100Val
NM_000360.4:c.286C>G MANE Select	NP_000351.2:p.Leu96Val
NM_199292.3:c.379C>G	NP_954986.2:p.Leu127Val
NM_199293.3:c.367C>G	NP_954987.2:p.Leu123Val