Canonical Allele Identifier: CA472414343

Gene: TH

Linked Data

• ClinVar Variation Id: 1077927
• ClinVar RCV Id: RCV001392668
• dbSNP Id: rs1417486240
• gnomAD v2: 11-2188190-A-G
• gnomAD v3: 11-2166960-A-G
• gnomAD v4: 11-2166960-A-G
• MyVariant Identifiers: chr11:g.2188190A>G (hg19) ; chr11:g.2166960A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166960A>G , CM000673.2:g.2166960A>G	GRCh38
NC_000011.9:g.2188190A>G , CM000673.1:g.2188190A>G	GRCh37
NC_000011.8:g.2144766A>G	NCBI36
NG_008128.1:g.9846T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.768T>C MANE Select	ENSP00000325951.4:p.Ala256=
ENST00000324155.8:c.*457T>C	ENSP00000325831.3:n.*457T>C
ENST00000333684.9:c.696-411T>C	ENSP00000328814.6:n.696-411T>C
ENST00000352909.7:c.768T>C	ENSP00000325951.3:p.Ala256=
ENST00000381168.7:c.*488T>C	ENSP00000370560.3:n.*488T>C
ENST00000381175.5:c.849T>C	ENSP00000370567.1:p.Ala283=
ENST00000381178.5:c.861T>C	ENSP00000370571.1:p.Ala287=
ENST00000412076.1:c.136-411T>C
ENST00000416223.5:c.136-192T>C
ENST00000469226.1:n.897T>C
ENST00000479437.5:n.317T>C
NM_000360.3:c.768T>C	NP_000351.2:p.Ala256=
NM_199292.2:c.861T>C	NP_954986.2:p.Ala287=
NM_199293.2:c.849T>C	NP_954987.2:p.Ala283=
XM_011520335.1:c.780T>C	XP_011518637.1:p.Ala260=
XM_011520335.2:c.780T>C	XP_011518637.1:p.Ala260=
NM_000360.4:c.768T>C MANE Select	NP_000351.2:p.Ala256=
NM_199292.3:c.861T>C	NP_954986.2:p.Ala287=
NM_199293.3:c.849T>C	NP_954987.2:p.Ala283=