Canonical Allele Identifier: CA070920

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1039073
• ClinVar RCV Id: RCV002242316
• dbSNP Id: rs745559875
• ExAC: 11:111959665 G / T
• gnomAD v3: 11-112088941-G-T
• gnomAD v4: 11-112088941-G-T
• MyVariant Identifiers: chr11:g.111959665G>T (hg19) ; chr11:g.112088941G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088941G>T , CM000673.2:g.112088941G>T	GRCh38
NC_000011.9:g.111959665G>T , CM000673.1:g.111959665G>T	GRCh37
NC_000011.8:g.111464875G>T	NCBI36
NG_012337.2:g.7095G>T
NG_033145.1:g.2858C>A
NG_012337.3:g.7095G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.244G>T	ENSP00000432946.2:p.Ala82Ser
ENST00000534010.2:c.244G>T	ENSP00000433202.2:p.Ala82Ser
ENST00000375549.8:c.244G>T MANE Select	ENSP00000364699.3:p.Ala82Ser
ENST00000528021.6:c.244G>T	ENSP00000432465.1:p.Ala82Ser
ENST00000640554.1:c.*316G>T	ENSP00000491141.1:n.*316G>T
ENST00000375549.7:c.244G>T	ENSP00000364699.3:p.Ala82Ser
ENST00000525291.5:c.127G>T	ENSP00000436669.1:p.Ala43Ser
ENST00000525987.5:n.249G>T
ENST00000526592.5:c.244G>T	ENSP00000432005.1:p.Ala82Ser
ENST00000528021.5:c.244G>T	ENSP00000432465.1:p.Ala82Ser
ENST00000528048.5:c.169+968G>T	ENSP00000436217.1:n.169+968G>T
ENST00000528182.5:c.244G>T	ENSP00000435475.1:p.Ala82Ser
ENST00000530923.5:c.234G>T
ENST00000531744.5:c.244G>T	ENSP00000456957.1:p.Ala82Ser
ENST00000532699.1:c.244G>T	ENSP00000456434.1:p.Ala82Ser
ENST00000534010.1:c.75G>T
ENST00000614349.4:c.244G>T	ENSP00000480666.1:p.Ala82Ser
NM_001276503.1:c.169+968G>T	NP_001263432.1:n.169+968G>T
NM_001276504.1:c.127G>T	NP_001263433.1:p.Ala43Ser
NM_001276506.1:c.244G>T	NP_001263435.1:p.Ala82Ser
NM_003002.3:c.244G>T	NP_002993.1:p.Ala82Ser
NR_077060.1:n.328G>T
NM_003002.4:c.244G>T MANE Select	NP_002993.1:p.Ala82Ser
NM_001276503.2:c.169+968G>T	NP_001263432.1:n.169+968G>T
NM_001276504.2:c.127G>T	NP_001263433.1:p.Ala43Ser
NM_001276506.2:c.244G>T	NP_001263435.1:p.Ala82Ser
NR_077060.2:n.279G>T