Canonical Allele Identifier: CA2672967757

Gene: SDHA

Linked Data

• gnomAD v4: 5-225890-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.225892dup , CM000667.2:g.225892dup	GRCh38
NC_000005.9:g.226007dup , CM000667.1:g.226007dup	GRCh37
NC_000005.8:g.279007dup	NCBI36
NG_012339.1:g.12652dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264932.11:c.466dup MANE Select	ENSP00000264932.6:p.Tyr156LeufsTer6
ENST00000651543.1:c.466dup	ENSP00000499215.1:p.Tyr156LeufsTer6
ENST00000264932.10:c.466dup	ENSP00000264932.6:p.Tyr156LeufsTer6
ENST00000504309.5:c.466dup	ENSP00000426514.1:p.Tyr156LeufsTer6
ENST00000504824.5:n.451dup
ENST00000505555.5:n.506dup
ENST00000509420.5:n.260dup
ENST00000510361.5:c.322dup	ENSP00000427703.1:p.Tyr108LeufsTer6
ENST00000617470.4:c.380+406dup	ENSP00000484230.1:n.380+406dup
NM_001294332.1:c.322dup	NP_001281261.1:p.Tyr108LeufsTer6
NM_004168.3:c.466dup	NP_004159.2:p.Tyr156LeufsTer6
XM_005248331.2:c.466dup	XP_005248388.1:p.Tyr156LeufsTer6
XM_011514072.1:c.466dup	XP_011512374.1:p.Tyr156LeufsTer6
XM_011514073.1:c.466dup	XP_011512375.1:p.Tyr156LeufsTer6
XR_925638.1:n.599dup
NM_001330758.1:c.466dup	NP_001317687.1:p.Tyr156LeufsTer6
XM_011514072.2:c.466dup	XP_011512374.1:p.Tyr156LeufsTer6
XM_011514073.2:c.466dup	XP_011512375.1:p.Tyr156LeufsTer6
XM_017009685.2:c.466dup	XP_016865174.1:p.Tyr156LeufsTer6
XM_024446143.1:c.322dup	XP_024301911.1:p.Tyr108LeufsTer6
XR_002956167.1:n.513dup
NM_004168.4:c.466dup MANE Select	NP_004159.2:p.Tyr156LeufsTer6
NM_001294332.2:c.322dup	NP_001281261.1:p.Tyr108LeufsTer6
NM_001330758.2:c.466dup	NP_001317687.1:p.Tyr156LeufsTer6