Canonical Allele Identifier: CA16612037

Gene: SDHA

Linked Data

• ClinVar Variation Id: 412384
• ClinVar RCV Id: RCV001011369 ; RCV002506135 ; RCV003226934
• dbSNP Id: rs770866830
• gnomAD v4: 5-218368-C-T
• MyVariant Identifiers: chr5:g.218483C>T (hg19) ; chr5:g.218368C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.218368C>T , CM000667.2:g.218368C>T	GRCh38
NC_000005.9:g.218483C>T , CM000667.1:g.218483C>T	GRCh37
NC_000005.8:g.271483C>T	NCBI36
NG_012339.1:g.5128C>T
NG_033064.1:g.4815G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.13C>T MANE Select	ENSP00000264932.6:p.Arg5Trp
ENST00000651543.1:c.13C>T	ENSP00000499215.1:p.Arg5Trp
ENST00000264932.10:c.13C>T	ENSP00000264932.6:p.Arg5Trp
ENST00000502379.5:n.58C>T
ENST00000504309.5:c.13C>T	ENSP00000426514.1:p.Arg5Trp
ENST00000505555.5:n.53C>T
ENST00000509632.5:c.13C>T	ENSP00000425077.1:p.Arg5Trp
ENST00000510361.5:c.13C>T	ENSP00000427703.1:p.Arg5Trp
ENST00000617470.4:c.13C>T	ENSP00000484230.1:p.Arg5Trp
NM_001294332.1:c.13C>T	NP_001281261.1:p.Arg5Trp
NM_004168.3:c.13C>T	NP_004159.2:p.Arg5Trp
XM_005248331.2:c.13C>T	XP_005248388.1:p.Arg5Trp
XM_011514072.1:c.13C>T	XP_011512374.1:p.Arg5Trp
XM_011514073.1:c.13C>T	XP_011512375.1:p.Arg5Trp
XR_925638.1:n.146C>T
NM_001330758.1:c.13C>T	NP_001317687.1:p.Arg5Trp
XM_011514072.2:c.13C>T	XP_011512374.1:p.Arg5Trp
XM_011514073.2:c.13C>T	XP_011512375.1:p.Arg5Trp
XM_017009685.2:c.13C>T	XP_016865174.1:p.Arg5Trp
XM_024446143.1:c.13C>T	XP_024301911.1:p.Arg5Trp
XR_002956167.1:n.60C>T
NM_004168.4:c.13C>T MANE Select	NP_004159.2:p.Arg5Trp
NM_001294332.2:c.13C>T	NP_001281261.1:p.Arg5Trp
NM_001330758.2:c.13C>T	NP_001317687.1:p.Arg5Trp