Canonical Allele Identifier: CA3172801

Gene: SDHA

Linked Data

• dbSNP Id: rs765884036
• ExAC: 5:225552 C / T
• gnomAD v2: 5-225552-C-T
• gnomAD v3: 5-225437-C-T
• gnomAD v4: 5-225437-C-T
• MyVariant Identifiers: chr5:g.225552C>T (hg19) ; chr5:g.225437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.225437C>T , CM000667.2:g.225437C>T	GRCh38
NC_000005.9:g.225552C>T , CM000667.1:g.225552C>T	GRCh37
NC_000005.8:g.278552C>T	NCBI36
NG_012339.1:g.12197C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264932.11:c.331C>T MANE Select	ENSP00000264932.6:p.Leu111=
ENST00000651543.1:c.331C>T	ENSP00000499215.1:p.Leu111=
ENST00000264932.10:c.331C>T	ENSP00000264932.6:p.Leu111=
ENST00000504309.5:c.331C>T	ENSP00000426514.1:p.Leu111=
ENST00000504824.5:n.316C>T
ENST00000505555.5:n.371C>T
ENST00000509632.5:c.*159C>T	ENSP00000425077.1:n.*159C>T
ENST00000510361.5:c.313-446C>T	ENSP00000427703.1:n.313-446C>T
ENST00000617470.4:c.331C>T	ENSP00000484230.1:p.Leu111=
NM_001294332.1:c.313-446C>T	NP_001281261.1:n.313-446C>T
NM_004168.3:c.331C>T	NP_004159.2:p.Leu111=
XM_005248331.2:c.331C>T	XP_005248388.1:p.Leu111=
XM_011514072.1:c.331C>T	XP_011512374.1:p.Leu111=
XM_011514073.1:c.331C>T	XP_011512375.1:p.Leu111=
XR_925638.1:n.464C>T
NM_001330758.1:c.331C>T	NP_001317687.1:p.Leu111=
XM_011514072.2:c.331C>T	XP_011512374.1:p.Leu111=
XM_011514073.2:c.331C>T	XP_011512375.1:p.Leu111=
XM_017009685.2:c.331C>T	XP_016865174.1:p.Leu111=
XM_024446143.1:c.313-446C>T	XP_024301911.1:n.313-446C>T
XR_002956167.1:n.378C>T
NM_004168.4:c.331C>T MANE Select	NP_004159.2:p.Leu111=
NM_001294332.2:c.313-446C>T	NP_001281261.1:n.313-446C>T
NM_001330758.2:c.331C>T	NP_001317687.1:p.Leu111=