Canonical Allele Identifier: CA382617352

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1499426
• ClinVar RCV Id: RCV002010654 ; RCV003348740
• dbSNP Id: rs2135269615
• MyVariant Identifiers: chr11:g.111959692A>T (hg19) ; chr11:g.112088968A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088968A>T , CM000673.2:g.112088968A>T	GRCh38
NC_000011.9:g.111959692A>T , CM000673.1:g.111959692A>T	GRCh37
NC_000011.8:g.111464902A>T	NCBI36
NG_012337.2:g.7122A>T
NG_033145.1:g.2831T>A
NG_012337.3:g.7122A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.271A>T	ENSP00000432946.2:p.Met91Leu
ENST00000534010.2:c.271A>T	ENSP00000433202.2:p.Met91Leu
ENST00000375549.8:c.271A>T MANE Select	ENSP00000364699.3:p.Met91Leu
ENST00000528021.6:c.271A>T	ENSP00000432465.1:p.Met91Leu
ENST00000640554.1:c.*343A>T	ENSP00000491141.1:n.*343A>T
ENST00000375549.7:c.271A>T	ENSP00000364699.3:p.Met91Leu
ENST00000525291.5:c.154A>T	ENSP00000436669.1:p.Met52Leu
ENST00000525987.5:n.276A>T
ENST00000526592.5:c.271A>T	ENSP00000432005.1:p.Met91Leu
ENST00000528021.5:c.271A>T	ENSP00000432465.1:p.Met91Leu
ENST00000528048.5:c.169+995A>T	ENSP00000436217.1:n.169+995A>T
ENST00000528182.5:c.271A>T	ENSP00000435475.1:p.Met91Leu
ENST00000530923.5:c.261A>T
ENST00000531744.5:c.271A>T	ENSP00000456957.1:p.Met91Leu
ENST00000532699.1:c.271A>T	ENSP00000456434.1:p.Met91Leu
ENST00000534010.1:c.102A>T
ENST00000614349.4:c.271A>T	ENSP00000480666.1:p.Met91Leu
NM_001276503.1:c.169+995A>T	NP_001263432.1:n.169+995A>T
NM_001276504.1:c.154A>T	NP_001263433.1:p.Met52Leu
NM_001276506.1:c.271A>T	NP_001263435.1:p.Met91Leu
NM_003002.3:c.271A>T	NP_002993.1:p.Met91Leu
NR_077060.1:n.355A>T
NM_003002.4:c.271A>T MANE Select	NP_002993.1:p.Met91Leu
NM_001276503.2:c.169+995A>T	NP_001263432.1:n.169+995A>T
NM_001276504.2:c.154A>T	NP_001263433.1:p.Met52Leu
NM_001276506.2:c.271A>T	NP_001263435.1:p.Met91Leu
NR_077060.2:n.306A>T