Canonical Allele Identifier: CA674604212

Gene: TH

Linked Data

• dbSNP Id: rs1200136432
• gnomAD v3: 11-2165063-C-A
• gnomAD v4: 11-2165063-C-A
• MyVariant Identifiers: chr11:g.2186293C>A (hg19) ; chr11:g.2165063C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165063C>A , CM000673.2:g.2165063C>A	GRCh38
NC_000011.9:g.2186293C>A , CM000673.1:g.2186293C>A	GRCh37
NC_000011.8:g.2142869C>A	NCBI36
NG_007114.1:g.1132G>T
NG_008128.1:g.11743G>T
NG_050578.1:g.1147G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1334+169G>T MANE Select	ENSP00000325951.4:n.1334+169G>T
ENST00000333684.9:c.1052+169G>T	ENSP00000328814.6:n.1052+169G>T
ENST00000352909.7:c.1334+169G>T	ENSP00000325951.3:n.1334+169G>T
ENST00000381175.5:c.1415+169G>T	ENSP00000370567.1:n.1415+169G>T
ENST00000381178.5:c.1427+169G>T	ENSP00000370571.1:n.1427+169G>T
NM_000360.3:c.1334+169G>T	NP_000351.2:n.1334+169G>T
NM_199292.2:c.1427+169G>T	NP_954986.2:n.1427+169G>T
NM_199293.2:c.1415+169G>T	NP_954987.2:n.1415+169G>T
XM_011520335.1:c.1346+169G>T	XP_011518637.1:n.1346+169G>T
XM_011520335.2:c.1346+169G>T	XP_011518637.1:n.1346+169G>T
NM_000360.4:c.1334+169G>T MANE Select	NP_000351.2:n.1334+169G>T
NM_199292.3:c.1427+169G>T	NP_954986.2:n.1427+169G>T
NM_199293.3:c.1415+169G>T	NP_954987.2:n.1415+169G>T