Canonical Allele Identifier: CA5818414

Gene: TH

Linked Data

• dbSNP Id: rs761747511
• ExAC: 11:2187743 C / A
• gnomAD v2: 11-2187743-C-A
• gnomAD v4: 11-2166513-C-A
• MyVariant Identifiers: chr11:g.2187743C>A (hg19) ; chr11:g.2166513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166513C>A , CM000673.2:g.2166513C>A	GRCh38
NC_000011.9:g.2187743C>A , CM000673.1:g.2187743C>A	GRCh37
NC_000011.8:g.2144319C>A	NCBI36
NG_008128.1:g.10293G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1014G>T MANE Select	ENSP00000325951.4:p.Met338Ile
ENST00000324155.8:c.*703G>T	ENSP00000325831.3:n.*703G>T
ENST00000333684.9:c.732G>T	ENSP00000328814.6:p.Met244Ile
ENST00000352909.7:c.1014G>T	ENSP00000325951.3:p.Met338Ile
ENST00000381168.7:c.*734G>T	ENSP00000370560.3:n.*734G>T
ENST00000381175.5:c.1095G>T	ENSP00000370567.1:p.Met365Ile
ENST00000381178.5:c.1107G>T	ENSP00000370571.1:p.Met369Ile
ENST00000412076.1:c.172G>T
ENST00000416223.5:c.308G>T
ENST00000461172.1:n.179G>T
ENST00000479437.5:n.563G>T
NM_000360.3:c.1014G>T	NP_000351.2:p.Met338Ile
NM_199292.2:c.1107G>T	NP_954986.2:p.Met369Ile
NM_199293.2:c.1095G>T	NP_954987.2:p.Met365Ile
XM_011520335.1:c.1026G>T	XP_011518637.1:p.Met342Ile
XM_011520335.2:c.1026G>T	XP_011518637.1:p.Met342Ile
NM_000360.4:c.1014G>T MANE Select	NP_000351.2:p.Met338Ile
NM_199292.3:c.1107G>T	NP_954986.2:p.Met369Ile
NM_199293.3:c.1095G>T	NP_954987.2:p.Met365Ile