Canonical Allele Identifier: CA342583

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169721C>T , CM000673.2:g.2169721C>T	GRCh38
NC_000011.9:g.2190951C>T , CM000673.1:g.2190951C>T	GRCh37
NC_000011.8:g.2147527C>T	NCBI36
NG_008128.1:g.7085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.241G>A MANE Select	ENSP00000325951.4:p.Val81Met
ENST00000324155.8:c.91-26G>A	ENSP00000325831.3:n.91-26G>A
ENST00000333684.9:c.241G>A	ENSP00000328814.6:p.Val81Met
ENST00000352909.7:c.241G>A	ENSP00000325951.3:p.Val81Met
ENST00000381168.7:c.103-26G>A	ENSP00000370560.3:n.103-26G>A
ENST00000381175.5:c.322G>A	ENSP00000370567.1:p.Val108Met
ENST00000381178.5:c.334G>A	ENSP00000370571.1:p.Val112Met
NM_000360.3:c.241G>A	NP_000351.2:p.Val81Met
NM_199292.2:c.334G>A	NP_954986.2:p.Val112Met
NM_199293.2:c.322G>A	NP_954987.2:p.Val108Met
XM_011520335.1:c.253G>A	XP_011518637.1:p.Val85Met
XM_011520335.2:c.253G>A	XP_011518637.1:p.Val85Met
NM_000360.4:c.241G>A MANE Select	NP_000351.2:p.Val81Met
NM_199292.3:c.334G>A	NP_954986.2:p.Val112Met
NM_199293.3:c.322G>A	NP_954987.2:p.Val108Met