Canonical Allele Identifier: CA346796596

Gene: THADA

Linked Data

• MyVariant Identifiers: chr2:g.43732829T>G (hg19) ; chr2:g.43505690T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43505690T>G , CM000664.2:g.43505690T>G	GRCh38
NC_000002.11:g.43732829T>G , CM000664.1:g.43732829T>G	GRCh37
NC_000002.10:g.43586333T>G	NCBI36
NG_051580.1:g.95357A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405975.7:c.3553A>C MANE Select	ENSP00000386088.2:p.Lys1185Gln
ENST00000398653.5:c.*2651A>C	ENSP00000381647.1:n.*2651A>C
ENST00000402796.5:c.2091A>C	ENSP00000385003.1:n.2091A>C
ENST00000405006.8:c.3553A>C	ENSP00000385995.4:p.Lys1185Gln
ENST00000405975.6:c.3553A>C	ENSP00000386088.2:p.Lys1185Gln
ENST00000407351.5:c.1494A>C
ENST00000408045.7:c.*2648A>C	ENSP00000384172.2:n.*2648A>C
ENST00000436947.1:n.152A>C
NM_001083953.1:c.3553A>C	NP_001077422.1:p.Lys1185Gln
NM_022065.4:c.3553A>C	NP_071348.3:p.Lys1185Gln
NR_073394.1:n.3685A>C
XM_006712061.2:c.3553A>C	XP_006712124.1:p.Lys1185Gln
XM_006712062.1:c.3550A>C	XP_006712125.1:p.Lys1184Gln
XM_006712063.1:c.3433A>C	XP_006712126.1:p.Lys1145Gln
XM_006712064.1:c.3553A>C	XP_006712127.1:p.Lys1185Gln
XM_006712065.1:c.3553A>C	XP_006712128.1:p.Lys1185Gln
XM_006712066.1:c.3190A>C	XP_006712129.1:p.Lys1064Gln
XM_006712067.1:c.3187A>C	XP_006712130.1:p.Lys1063Gln
XM_006712068.2:c.3553A>C	XP_006712131.1:p.Lys1185Gln
XM_006712069.2:c.1102A>C	XP_006712132.1:p.Lys368Gln
XM_011533015.1:c.3553A>C	XP_011531317.1:p.Lys1185Gln
XM_011533016.1:c.865A>C	XP_011531318.1:p.Lys289Gln
NM_001345923.1:c.3550A>C	NP_001332852.1:p.Lys1184Gln
NM_001345924.1:c.3430A>C	NP_001332853.1:p.Lys1144Gln
NM_001345925.1:c.3553A>C	NP_001332854.1:p.Lys1185Gln
NR_144316.1:n.3693A>C
XM_006712064.2:c.3553A>C	XP_006712127.1:p.Lys1185Gln
XM_006712068.3:c.3553A>C	XP_006712131.1:p.Lys1185Gln
XM_006712069.3:c.1102A>C	XP_006712132.1:p.Lys368Gln
XM_011533015.3:c.3553A>C	XP_011531317.1:p.Lys1185Gln
XM_017004675.1:c.865A>C	XP_016860164.1:p.Lys289Gln
NM_001083953.2:c.3553A>C	NP_001077422.1:p.Lys1185Gln
NM_001345923.2:c.3550A>C	NP_001332852.1:p.Lys1184Gln
NM_001345924.2:c.3430A>C	NP_001332853.1:p.Lys1144Gln
NM_001345925.2:c.3553A>C	NP_001332854.1:p.Lys1185Gln
NM_022065.5:c.3553A>C MANE Select	NP_071348.3:p.Lys1185Gln
NR_073394.2:n.3677A>C
NR_144316.2:n.3685A>C