Canonical Allele Identifier: CA379112130

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2190885A>G (hg19) ; chr11:g.2169655A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169655A>G , CM000673.2:g.2169655A>G	GRCh38
NC_000011.9:g.2190885A>G , CM000673.1:g.2190885A>G	GRCh37
NC_000011.8:g.2147461A>G	NCBI36
NG_008128.1:g.7151T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.307T>C MANE Select	ENSP00000325951.4:p.Phe103Leu
ENST00000324155.8:c.131T>C	ENSP00000325831.3:p.Val44Ala
ENST00000333684.9:c.307T>C	ENSP00000328814.6:p.Phe103Leu
ENST00000352909.7:c.307T>C	ENSP00000325951.3:p.Phe103Leu
ENST00000381168.7:c.143T>C	ENSP00000370560.3:p.Val48Ala
ENST00000381175.5:c.388T>C	ENSP00000370567.1:p.Phe130Leu
ENST00000381178.5:c.400T>C	ENSP00000370571.1:p.Phe134Leu
NM_000360.3:c.307T>C	NP_000351.2:p.Phe103Leu
NM_199292.2:c.400T>C	NP_954986.2:p.Phe134Leu
NM_199293.2:c.388T>C	NP_954987.2:p.Phe130Leu
XM_011520335.1:c.319T>C	XP_011518637.1:p.Phe107Leu
XM_011520335.2:c.319T>C	XP_011518637.1:p.Phe107Leu
NM_000360.4:c.307T>C MANE Select	NP_000351.2:p.Phe103Leu
NM_199292.3:c.400T>C	NP_954986.2:p.Phe134Leu
NM_199293.3:c.388T>C	NP_954987.2:p.Phe130Leu