Canonical Allele Identifier: CA2611971800

Gene: TH

Linked Data

• gnomAD v4: 11-2167997-G-GCTCCTGGAGCCGACAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2168004_2168020dup , CM000673.2:g.2168004_2168020dup	GRCh38
NC_000011.9:g.2189234_2189250dup , CM000673.1:g.2189234_2189250dup	GRCh37
NC_000011.8:g.2145810_2145826dup	NCBI36
NG_008128.1:g.8792_8808dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.576+77_577-65dup MANE Select	ENSP00000325951.4:n.576+77_577-65dup
ENST00000324155.8:c.*265+77_*266-65dup	ENSP00000325831.3:n.*265+77_*266-65dup
ENST00000333684.9:c.576+77_577-65dup	ENSP00000328814.6:n.576+77_577-65dup
ENST00000352909.7:c.576+77_577-65dup	ENSP00000325951.3:n.576+77_577-65dup
ENST00000381168.7:c.*265+77_*266-65dup	ENSP00000370560.3:n.*265+77_*266-65dup
ENST00000381175.5:c.657+77_658-65dup	ENSP00000370567.1:n.657+77_658-65dup
ENST00000381178.5:c.669+77_670-65dup	ENSP00000370571.1:n.669+77_670-65dup
ENST00000412076.1:c.16+77_17-65dup
ENST00000416223.5:c.16+77_17-65dup
ENST00000469226.1:n.325+77_326-65dup
NM_000360.3:c.576+77_577-65dup	NP_000351.2:n.576+77_577-65dup
NM_199292.2:c.669+77_670-65dup	NP_954986.2:n.669+77_670-65dup
NM_199293.2:c.657+77_658-65dup	NP_954987.2:n.657+77_658-65dup
XM_011520335.1:c.588+77_589-65dup	XP_011518637.1:n.588+77_589-65dup
XM_011520335.2:c.588+77_589-65dup	XP_011518637.1:n.588+77_589-65dup
NM_000360.4:c.576+77_577-65dup MANE Select	NP_000351.2:n.576+77_577-65dup
NM_199292.3:c.669+77_670-65dup	NP_954986.2:n.669+77_670-65dup
NM_199293.3:c.657+77_658-65dup	NP_954987.2:n.657+77_658-65dup