Canonical Allele Identifier: CA1948009479

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169678_2169679delinsGC , CM000673.2:g.2169678_2169679delinsGC	GRCh38
NC_000011.9:g.2190908_2190909delinsGC , CM000673.1:g.2190908_2190909delinsGC	GRCh37
NC_000011.8:g.2147484_2147485delinsGC	NCBI36
NG_008128.1:g.7127_7128delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.283_284delinsGC MANE Select	ENSP00000325951.4:p.Ala95=
ENST00000324155.8:c.107_108delinsGC	ENSP00000325831.3:p.Gly36=
ENST00000333684.9:c.283_284delinsGC	ENSP00000328814.6:p.Ala95=
ENST00000352909.7:c.283_284delinsGC	ENSP00000325951.3:p.Ala95=
ENST00000381168.7:c.119_120delinsGC	ENSP00000370560.3:p.Gly40=
ENST00000381175.5:c.364_365delinsGC	ENSP00000370567.1:p.Ala122=
ENST00000381178.5:c.376_377delinsGC	ENSP00000370571.1:p.Ala126=
NM_000360.3:c.283_284delinsGC	NP_000351.2:p.Ala95=
NM_199292.2:c.376_377delinsGC	NP_954986.2:p.Ala126=
NM_199293.2:c.364_365delinsGC	NP_954987.2:p.Ala122=
XM_011520335.1:c.295_296delinsGC	XP_011518637.1:p.Ala99=
XM_011520335.2:c.295_296delinsGC	XP_011518637.1:p.Ala99=
NM_000360.4:c.283_284delinsGC MANE Select	NP_000351.2:p.Ala95=
NM_199292.3:c.376_377delinsGC	NP_954986.2:p.Ala126=
NM_199293.3:c.364_365delinsGC	NP_954987.2:p.Ala122=