Canonical Allele Identifier: CA11986094
Gene: SGCD HGNC NCBI
COSMIC:
COSN14776059 (not active)
MyVariant.info:
GRCh38 chr5:g.156073982G>A
GRCh37 chr5:g.155500992G>A
gnomAD v2:
5:155500992 G / A
gnomAD v3:
5:156073982 G / A
gnomAD v4:
chr5-156073982-G-A
Joint Max Group AF 0.18440006 (NFE)
Genomes Max Group AF 0.18440006 (NFE)
dbSNP:
4704970
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156073982G>A , CM000667.2:g.156073982G>A GRCh38
NC_000005.9:g.155500992G>A , CM000667.1:g.155500992G>A GRCh37
NC_000005.8:g.155433570G>A NCBI36
NG_008693.2:g.208639G>A , LRG_205:g.208639G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000517913.5:c.-281-43896G>A ENSP00000429378.1:n.-281-43896G>A
XM_017009723.2:c.-207-49874G>A XP_016865212.1:n.-207-49874G>A
XM_017009724.1:c.-207-49874G>A XP_016865213.1:n.-207-49874G>A
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