Canonical Allele Identifier: CA442692097

Gene: SDHA

Linked Data

• ClinVar Variation Id: 1125978
• ClinVar RCV Id: RCV001457888 ; RCV002384720
• dbSNP Id: rs2126589870
• MyVariant Identifiers: chr5:g.236611T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.236496T>C , CM000667.2:g.236496T>C	GRCh38
NC_000005.9:g.236611T>C , CM000667.1:g.236611T>C	GRCh37
NC_000005.8:g.289611T>C	NCBI36
NG_012339.1:g.23256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1329T>C MANE Select	ENSP00000264932.6:p.Cys443=
ENST00000651543.1:c.*62T>C	ENSP00000499215.1:n.*62T>C
ENST00000264932.10:c.1329T>C	ENSP00000264932.6:p.Cys443=
ENST00000504309.5:c.1329T>C	ENSP00000426514.1:p.Cys443=
ENST00000505555.5:n.1369T>C
ENST00000510361.5:c.1185T>C	ENSP00000427703.1:p.Cys395=
ENST00000511810.5:n.2076T>C
ENST00000512962.5:n.915T>C
ENST00000514027.5:n.1284T>C
ENST00000515752.5:n.915T>C
ENST00000617470.4:c.894T>C	ENSP00000484230.1:p.Cys298=
NM_001294332.1:c.1185T>C	NP_001281261.1:p.Cys395=
NM_004168.3:c.1329T>C	NP_004159.2:p.Cys443=
XM_005248331.2:c.1329T>C	XP_005248388.1:p.Cys443=
XM_011514072.1:c.1329T>C	XP_011512374.1:p.Cys443=
XM_011514073.1:c.1329T>C	XP_011512375.1:p.Cys443=
XR_925638.1:n.1462T>C
NM_001330758.1:c.1329T>C	NP_001317687.1:p.Cys443=
XM_011514072.2:c.1329T>C	XP_011512374.1:p.Cys443=
XM_011514073.2:c.1329T>C	XP_011512375.1:p.Cys443=
XM_017009685.2:c.1329T>C	XP_016865174.1:p.Cys443=
XM_024446143.1:c.1185T>C	XP_024301911.1:p.Cys395=
XR_002956167.1:n.1376T>C
NM_004168.4:c.1329T>C MANE Select	NP_004159.2:p.Cys443=
NM_001294332.2:c.1185T>C	NP_001281261.1:p.Cys395=
NM_001330758.2:c.1329T>C	NP_001317687.1:p.Cys443=