Canonical Allele Identifier: CA358609

Gene: SDHA

Linked Data

• PubMed: PMID:10746566 ; PMID:22972948

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.[225434G>C;240474A>G] , CM000667.2:g.[225434G>C;240474A>G]	GRCh38
NC_000005.9:g.[225549G>C;240589A>G] , CM000667.1:g.[225549G>C;240589A>G]	GRCh37
NC_000005.8:g.[278549G>C;293589A>G]	NCBI36
NG_012339.1:g.[12194G>C;27234A>G]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.[328G>C;1549A>G] MANE Select	ENSP00000264932.6:p.[Ala110Pro;Lys517Glu]
ENST00000651543.1:c.[328G>C;*282A>G]	ENSP00000499215.1:[p.Ala110Pro;n.*282A>G]
ENST00000264932.10:c.[328G>C;1549A>G]	ENSP00000264932.6:p.[Ala110Pro;Lys517Glu]
ENST00000504309.5:c.[328G>C;1549A>G]	ENSP00000426514.1:p.[Ala110Pro;Lys517Glu]
ENST00000505555.5:n.[368G>C;1589A>G]
ENST00000510361.5:c.[313-449G>C;1405A>G]	ENSP00000427703.1:p.Lys469Glu
ENST00000617470.4:c.[328G>C;1114A>G]	ENSP00000484230.1:p.[Ala110Pro;Lys372Glu]
NM_001294332.1:c.[313-449G>C;1405A>G]	NP_001281261.1:p.Lys469Glu
NM_004168.3:c.[328G>C;1549A>G]	NP_004159.2:p.[Ala110Pro;Lys517Glu]
XM_005248331.2:c.[328G>C;1549A>G]	XP_005248388.1:p.[Ala110Pro;Lys517Glu]
XM_011514072.1:c.[328G>C;1549A>G]	XP_011512374.1:p.[Ala110Pro;Lys517Glu]
XM_011514073.1:c.[328G>C;1549A>G]	XP_011512375.1:p.[Ala110Pro;Lys517Glu]
XR_925638.1:n.[461G>C;1682A>G]
NM_001330758.1:c.[328G>C;1549A>G]	NP_001317687.1:p.[Ala110Pro;Lys517Glu]
XM_011514072.2:c.[328G>C;1549A>G]	XP_011512374.1:p.[Ala110Pro;Lys517Glu]
XM_011514073.2:c.[328G>C;1549A>G]	XP_011512375.1:p.[Ala110Pro;Lys517Glu]
XM_017009685.2:c.[328G>C;1549A>G]	XP_016865174.1:p.[Ala110Pro;Lys517Glu]
XM_024446143.1:c.[313-449G>C;1405A>G]	XP_024301911.1:p.Lys469Glu
XR_002956167.1:n.[375G>C;1596A>G]
NM_004168.4:c.[328G>C;1549A>G] MANE Select	NP_004159.2:p.[Ala110Pro;Lys517Glu]
NM_001294332.2:c.[313-449G>C;1405A>G]	NP_001281261.1:p.Lys469Glu
NM_001330758.2:c.[328G>C;1549A>G]	NP_001317687.1:p.[Ala110Pro;Lys517Glu]