Canonical Allele Identifier: CA15486983
Gene: SDHAF3 HGNC NCBI

Linked Data

dbSNP Id: rs13475
gnomAD v2: 7-96810729-G-A
gnomAD v3: 7-97181417-G-A
gnomAD v4: 7-97181417-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97181417G>A , CM000669.2:g.97181417G>A GRCh38
NC_000007.13:g.96810729G>A , CM000669.1:g.96810729G>A GRCh37
NC_000007.12:g.96648665G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000432641.3:c.*202G>A MANE Select ENSP00000414066.2:n.*202G>A
ENST00000360382.4:c.*453G>A ENSP00000353548.4:n.*453G>A
ENST00000432641.2:c.*202G>A ENSP00000414066.2:n.*202G>A
ENST00000479853.1:n.544G>A
NM_020186.2:c.*202G>A NP_064571.1:n.*202G>A
NM_020186.3:c.*202G>A MANE Select NP_064571.1:n.*202G>A