Canonical Allele Identifier: CA359014296

Gene: SDHA

Linked Data

• ClinVar Variation Id: 2682077
• ClinVar RCV Id: RCV003477369
• MyVariant Identifiers: chr5:g.240537G>C (hg19) ; chr5:g.240422G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.240422G>C , CM000667.2:g.240422G>C	GRCh38
NC_000005.9:g.240537G>C , CM000667.1:g.240537G>C	GRCh37
NC_000005.8:g.293537G>C	NCBI36
NG_012339.1:g.27182G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.1497G>C MANE Select	ENSP00000264932.6:p.Leu499Phe
ENST00000651543.1:c.*230G>C	ENSP00000499215.1:n.*230G>C
ENST00000264932.10:c.1497G>C	ENSP00000264932.6:p.Leu499Phe
ENST00000504309.5:c.1497G>C	ENSP00000426514.1:p.Leu499Phe
ENST00000505555.5:n.1537G>C
ENST00000510361.5:c.1353G>C	ENSP00000427703.1:p.Leu451Phe
ENST00000511810.5:n.2244G>C
ENST00000514027.5:n.1452G>C
ENST00000515752.5:n.1083G>C
ENST00000515815.5:c.152G>C
ENST00000617470.4:c.1062G>C	ENSP00000484230.1:p.Leu354Phe
NM_001294332.1:c.1353G>C	NP_001281261.1:p.Leu451Phe
NM_004168.3:c.1497G>C	NP_004159.2:p.Leu499Phe
XM_005248331.2:c.1497G>C	XP_005248388.1:p.Leu499Phe
XM_011514072.1:c.1497G>C	XP_011512374.1:p.Leu499Phe
XM_011514073.1:c.1497G>C	XP_011512375.1:p.Leu499Phe
XR_925638.1:n.1630G>C
NM_001330758.1:c.1497G>C	NP_001317687.1:p.Leu499Phe
XM_011514072.2:c.1497G>C	XP_011512374.1:p.Leu499Phe
XM_011514073.2:c.1497G>C	XP_011512375.1:p.Leu499Phe
XM_017009685.2:c.1497G>C	XP_016865174.1:p.Leu499Phe
XM_024446143.1:c.1353G>C	XP_024301911.1:p.Leu451Phe
XR_002956167.1:n.1544G>C
NM_004168.4:c.1497G>C MANE Select	NP_004159.2:p.Leu499Phe
NM_001294332.2:c.1353G>C	NP_001281261.1:p.Leu451Phe
NM_001330758.2:c.1497G>C	NP_001317687.1:p.Leu499Phe