Canonical Allele Identifier: CA934428277

Gene: TH

Linked Data

• dbSNP Id: rs1481440771
• gnomAD v3: 11-2165197-C-T
• gnomAD v4: 11-2165197-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165197C>T , CM000673.2:g.2165197C>T	GRCh38
NC_000011.9:g.2186427C>T , CM000673.1:g.2186427C>T	GRCh37
NC_000011.8:g.2143003C>T	NCBI36
NG_007114.1:g.998G>A
NG_008128.1:g.11609G>A
NG_050578.1:g.1013G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1334+35G>A MANE Select	ENSP00000325951.4:n.1334+35G>A
ENST00000333684.9:c.1052+35G>A	ENSP00000328814.6:n.1052+35G>A
ENST00000352909.7:c.1334+35G>A	ENSP00000325951.3:n.1334+35G>A
ENST00000381175.5:c.1415+35G>A	ENSP00000370567.1:n.1415+35G>A
ENST00000381178.5:c.1427+35G>A	ENSP00000370571.1:n.1427+35G>A
NM_000360.3:c.1334+35G>A	NP_000351.2:n.1334+35G>A
NM_199292.2:c.1427+35G>A	NP_954986.2:n.1427+35G>A
NM_199293.2:c.1415+35G>A	NP_954987.2:n.1415+35G>A
XM_011520335.1:c.1346+35G>A	XP_011518637.1:n.1346+35G>A
XM_011520335.2:c.1346+35G>A	XP_011518637.1:n.1346+35G>A
NM_000360.4:c.1334+35G>A MANE Select	NP_000351.2:n.1334+35G>A
NM_199292.3:c.1427+35G>A	NP_954986.2:n.1427+35G>A
NM_199293.3:c.1415+35G>A	NP_954987.2:n.1415+35G>A