Canonical Allele Identifier: CA216282501

Gene: TH

Linked Data

• dbSNP Id: rs770094395
• gnomAD v2: 11-2186302-G-A
• gnomAD v3: 11-2165072-G-A
• gnomAD v4: 11-2165072-G-A
• COSMIC: COSN21522723 ; COSN24286135
• MyVariant Identifiers: chr11:g.2186302G>A (hg19) ; chr11:g.2165072G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165072G>A , CM000673.2:g.2165072G>A	GRCh38
NC_000011.9:g.2186302G>A , CM000673.1:g.2186302G>A	GRCh37
NC_000011.8:g.2142878G>A	NCBI36
NG_007114.1:g.1123C>T
NG_008128.1:g.11734C>T
NG_050578.1:g.1138C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1334+160C>T MANE Select	ENSP00000325951.4:n.1334+160C>T
ENST00000333684.9:c.1052+160C>T	ENSP00000328814.6:n.1052+160C>T
ENST00000352909.7:c.1334+160C>T	ENSP00000325951.3:n.1334+160C>T
ENST00000381175.5:c.1415+160C>T	ENSP00000370567.1:n.1415+160C>T
ENST00000381178.5:c.1427+160C>T	ENSP00000370571.1:n.1427+160C>T
NM_000360.3:c.1334+160C>T	NP_000351.2:n.1334+160C>T
NM_199292.2:c.1427+160C>T	NP_954986.2:n.1427+160C>T
NM_199293.2:c.1415+160C>T	NP_954987.2:n.1415+160C>T
XM_011520335.1:c.1346+160C>T	XP_011518637.1:n.1346+160C>T
XM_011520335.2:c.1346+160C>T	XP_011518637.1:n.1346+160C>T
NM_000360.4:c.1334+160C>T MANE Select	NP_000351.2:n.1334+160C>T
NM_199292.3:c.1427+160C>T	NP_954986.2:n.1427+160C>T
NM_199293.3:c.1415+160C>T	NP_954987.2:n.1415+160C>T