Canonical Allele Identifier: CA379124849

Gene: TH

Linked Data

• dbSNP Id: rs1416459085
• gnomAD v4: 11-2165239-T-A
• MyVariant Identifiers: chr11:g.2186469T>A (hg19) ; chr11:g.2165239T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165239T>A , CM000673.2:g.2165239T>A	GRCh38
NC_000011.9:g.2186469T>A , CM000673.1:g.2186469T>A	GRCh37
NC_000011.8:g.2143045T>A	NCBI36
NG_007114.1:g.956A>T
NG_008128.1:g.11567A>T
NG_050578.1:g.971A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1327A>T MANE Select	ENSP00000325951.4:p.Lys443Ter
ENST00000333684.9:c.1045A>T	ENSP00000328814.6:p.Lys349Ter
ENST00000352909.7:c.1327A>T	ENSP00000325951.3:p.Lys443Ter
ENST00000381175.5:c.1408A>T	ENSP00000370567.1:p.Lys470Ter
ENST00000381178.5:c.1420A>T	ENSP00000370571.1:p.Lys474Ter
NM_000360.3:c.1327A>T	NP_000351.2:p.Lys443Ter
NM_199292.2:c.1420A>T	NP_954986.2:p.Lys474Ter
NM_199293.2:c.1408A>T	NP_954987.2:p.Lys470Ter
XM_011520335.1:c.1339A>T	XP_011518637.1:p.Lys447Ter
XM_011520335.2:c.1339A>T	XP_011518637.1:p.Lys447Ter
NM_000360.4:c.1327A>T MANE Select	NP_000351.2:p.Lys443Ter
NM_199292.3:c.1420A>T	NP_954986.2:p.Lys474Ter
NM_199293.3:c.1408A>T	NP_954987.2:p.Lys470Ter