Canonical Allele Identifier: CA5818430

Gene: TH

Linked Data

• dbSNP Id: rs778523740
• ExAC: 11:2187823 A / AC
• gnomAD v2: 11-2187823-A-AC
• gnomAD v3: 11-2166593-A-AC
• gnomAD v4: 11-2166593-A-AC
• MyVariant Identifiers: chr11:g.2187824_2187825insC (hg19) ; chr11:g.2187823_2187824insC (hg19) ; chr11:g.2166593_2166594insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166599dup , CM000673.2:g.2166599dup	GRCh38
NC_000011.9:g.2187829dup , CM000673.1:g.2187829dup	GRCh37
NC_000011.8:g.2144405dup	NCBI36
NG_008128.1:g.10212dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.977+39dup MANE Select	ENSP00000325951.4:n.977+39dup
ENST00000324155.8:c.*666+39dup	ENSP00000325831.3:n.*666+39dup
ENST00000333684.9:c.696-45dup	ENSP00000328814.6:n.696-45dup
ENST00000352909.7:c.977+39dup	ENSP00000325951.3:n.977+39dup
ENST00000381168.7:c.*697+39dup	ENSP00000370560.3:n.*697+39dup
ENST00000381175.5:c.1058+39dup	ENSP00000370567.1:n.1058+39dup
ENST00000381178.5:c.1070+39dup	ENSP00000370571.1:n.1070+39dup
ENST00000412076.1:c.136-45dup
ENST00000416223.5:c.271+39dup
ENST00000461172.1:n.142+39dup
ENST00000479437.5:n.526+39dup
NM_000360.3:c.977+39dup	NP_000351.2:n.977+39dup
NM_199292.2:c.1070+39dup	NP_954986.2:n.1070+39dup
NM_199293.2:c.1058+39dup	NP_954987.2:n.1058+39dup
XM_011520335.1:c.989+39dup	XP_011518637.1:n.989+39dup
XM_011520335.2:c.989+39dup	XP_011518637.1:n.989+39dup
NM_000360.4:c.977+39dup MANE Select	NP_000351.2:n.977+39dup
NM_199292.3:c.1070+39dup	NP_954986.2:n.1070+39dup
NM_199293.3:c.1058+39dup	NP_954987.2:n.1058+39dup