Canonical Allele Identifier: CA346796599

Gene: THADA

Linked Data

• MyVariant Identifiers: chr2:g.43732831A>C (hg19) ; chr2:g.43505692A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43505692A>C , CM000664.2:g.43505692A>C	GRCh38
NC_000002.11:g.43732831A>C , CM000664.1:g.43732831A>C	GRCh37
NC_000002.10:g.43586335A>C	NCBI36
NG_051580.1:g.95355T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405975.7:c.3551T>G MANE Select	ENSP00000386088.2:p.Leu1184Trp
ENST00000398653.5:c.*2649T>G	ENSP00000381647.1:n.*2649T>G
ENST00000402796.5:c.2089T>G	ENSP00000385003.1:n.2089T>G
ENST00000405006.8:c.3551T>G	ENSP00000385995.4:p.Leu1184Trp
ENST00000405975.6:c.3551T>G	ENSP00000386088.2:p.Leu1184Trp
ENST00000407351.5:c.1492T>G
ENST00000408045.7:c.*2646T>G	ENSP00000384172.2:n.*2646T>G
ENST00000436947.1:n.150T>G
NM_001083953.1:c.3551T>G	NP_001077422.1:p.Leu1184Trp
NM_022065.4:c.3551T>G	NP_071348.3:p.Leu1184Trp
NR_073394.1:n.3683T>G
XM_006712061.2:c.3551T>G	XP_006712124.1:p.Leu1184Trp
XM_006712062.1:c.3548T>G	XP_006712125.1:p.Leu1183Trp
XM_006712063.1:c.3431T>G	XP_006712126.1:p.Leu1144Trp
XM_006712064.1:c.3551T>G	XP_006712127.1:p.Leu1184Trp
XM_006712065.1:c.3551T>G	XP_006712128.1:p.Leu1184Trp
XM_006712066.1:c.3188T>G	XP_006712129.1:p.Leu1063Trp
XM_006712067.1:c.3185T>G	XP_006712130.1:p.Leu1062Trp
XM_006712068.2:c.3551T>G	XP_006712131.1:p.Leu1184Trp
XM_006712069.2:c.1100T>G	XP_006712132.1:p.Leu367Trp
XM_011533015.1:c.3551T>G	XP_011531317.1:p.Leu1184Trp
XM_011533016.1:c.863T>G	XP_011531318.1:p.Leu288Trp
NM_001345923.1:c.3548T>G	NP_001332852.1:p.Leu1183Trp
NM_001345924.1:c.3428T>G	NP_001332853.1:p.Leu1143Trp
NM_001345925.1:c.3551T>G	NP_001332854.1:p.Leu1184Trp
NR_144316.1:n.3691T>G
XM_006712064.2:c.3551T>G	XP_006712127.1:p.Leu1184Trp
XM_006712068.3:c.3551T>G	XP_006712131.1:p.Leu1184Trp
XM_006712069.3:c.1100T>G	XP_006712132.1:p.Leu367Trp
XM_011533015.3:c.3551T>G	XP_011531317.1:p.Leu1184Trp
XM_017004675.1:c.863T>G	XP_016860164.1:p.Leu288Trp
NM_001083953.2:c.3551T>G	NP_001077422.1:p.Leu1184Trp
NM_001345923.2:c.3548T>G	NP_001332852.1:p.Leu1183Trp
NM_001345924.2:c.3428T>G	NP_001332853.1:p.Leu1143Trp
NM_001345925.2:c.3551T>G	NP_001332854.1:p.Leu1184Trp
NM_022065.5:c.3551T>G MANE Select	NP_071348.3:p.Leu1184Trp
NR_073394.2:n.3675T>G
NR_144316.2:n.3683T>G