Canonical Allele Identifier: CA379124846

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2186469T>G (hg19) ; chr11:g.2165239T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1327A>C MANE Select	ENSP00000325951.4:p.Lys443Gln
ENST00000333684.9:c.1045A>C	ENSP00000328814.6:p.Lys349Gln
ENST00000352909.7:c.1327A>C	ENSP00000325951.3:p.Lys443Gln
ENST00000381175.5:c.1408A>C	ENSP00000370567.1:p.Lys470Gln
ENST00000381178.5:c.1420A>C	ENSP00000370571.1:p.Lys474Gln
NM_000360.3:c.1327A>C	NP_000351.2:p.Lys443Gln
NM_199292.2:c.1420A>C	NP_954986.2:p.Lys474Gln
NM_199293.2:c.1408A>C	NP_954987.2:p.Lys470Gln
XM_011520335.1:c.1339A>C	XP_011518637.1:p.Lys447Gln
XM_011520335.2:c.1339A>C	XP_011518637.1:p.Lys447Gln
NM_000360.4:c.1327A>C MANE Select	NP_000351.2:p.Lys443Gln
NM_199292.3:c.1420A>C	NP_954986.2:p.Lys474Gln
NM_199293.3:c.1408A>C	NP_954987.2:p.Lys470Gln