Canonical Allele Identifier: CA472018748

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2190904C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169674C>A , CM000673.2:g.2169674C>A	GRCh38
NC_000011.9:g.2190904C>A , CM000673.1:g.2190904C>A	GRCh37
NC_000011.8:g.2147480C>A	NCBI36
NG_008128.1:g.7132G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.288G>T MANE Select	ENSP00000325951.4:p.Leu96=
ENST00000324155.8:c.112G>T	ENSP00000325831.3:p.Val38Phe
ENST00000333684.9:c.288G>T	ENSP00000328814.6:p.Leu96=
ENST00000352909.7:c.288G>T	ENSP00000325951.3:p.Leu96=
ENST00000381168.7:c.124G>T	ENSP00000370560.3:p.Val42Phe
ENST00000381175.5:c.369G>T	ENSP00000370567.1:p.Leu123=
ENST00000381178.5:c.381G>T	ENSP00000370571.1:p.Leu127=
NM_000360.3:c.288G>T	NP_000351.2:p.Leu96=
NM_199292.2:c.381G>T	NP_954986.2:p.Leu127=
NM_199293.2:c.369G>T	NP_954987.2:p.Leu123=
XM_011520335.1:c.300G>T	XP_011518637.1:p.Leu100=
XM_011520335.2:c.300G>T	XP_011518637.1:p.Leu100=
NM_000360.4:c.288G>T MANE Select	NP_000351.2:p.Leu96=
NM_199292.3:c.381G>T	NP_954986.2:p.Leu127=
NM_199293.3:c.369G>T	NP_954987.2:p.Leu123=