Canonical Allele Identifier: CA5818735

Gene: TH

Linked Data

• ClinVar Variation Id: 374421
• ClinVar RCV Id: RCV000416035 ; RCV001277078
• dbSNP Id: rs151082354
• ExAC: 11:2190904 C / G
• gnomAD v2: 11-2190904-C-G
• gnomAD v3: 11-2169674-C-G
• gnomAD v4: 11-2169674-C-G
• MyVariant Identifiers: chr11:g.2190904C>G (hg19) ; chr11:g.2169674C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.288G>C MANE Select	ENSP00000325951.4:p.Leu96=
ENST00000324155.8:c.112G>C	ENSP00000325831.3:p.Val38Leu
ENST00000333684.9:c.288G>C	ENSP00000328814.6:p.Leu96=
ENST00000352909.7:c.288G>C	ENSP00000325951.3:p.Leu96=
ENST00000381168.7:c.124G>C	ENSP00000370560.3:p.Val42Leu
ENST00000381175.5:c.369G>C	ENSP00000370567.1:p.Leu123=
ENST00000381178.5:c.381G>C	ENSP00000370571.1:p.Leu127=
NM_000360.3:c.288G>C	NP_000351.2:p.Leu96=
NM_199292.2:c.381G>C	NP_954986.2:p.Leu127=
NM_199293.2:c.369G>C	NP_954987.2:p.Leu123=
XM_011520335.1:c.300G>C	XP_011518637.1:p.Leu100=
XM_011520335.2:c.300G>C	XP_011518637.1:p.Leu100=
NM_000360.4:c.288G>C MANE Select	NP_000351.2:p.Leu96=
NM_199292.3:c.381G>C	NP_954986.2:p.Leu127=
NM_199293.3:c.369G>C	NP_954987.2:p.Leu123=