Canonical Allele Identifier: CA3530698
Gene: SGCD HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.156759310G>A
GRCh37 chr5:g.156186321G>A
Revel Score:
ENST00000435422 0.685
ENST00000337851 (MANE Select) 0.685
gnomAD v2:
5:156186321 G / A
gnomAD v3:
5:156759310 G / A
gnomAD v4:
chr5-156759310-G-A
Joint Max Group AF 0.00022988 (NFE)
Genomes Max Group AF 0.00011225 (NFE)
Exomes Max Group AF 0.00023326 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156759310G>A , CM000667.2:g.156759310G>A GRCh38
NC_000005.9:g.156186321G>A , CM000667.1:g.156186321G>A GRCh37
NC_000005.8:g.156118899G>A NCBI36
NG_008693.2:g.893968G>A , LRG_205:g.893968G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.793G>A MANE Select ENSP00000338343.4:p.Val265Ile
ENST00000337851.8:c.793G>A ENSP00000338343.4:p.Val265Ile
ENST00000435422.7:c.790G>A ENSP00000403003.2:p.Val264Ile
NM_000337.5:c.793G>A , LRG_205t1:c.793G>A NP_000328.2:p.Val265Ile
NM_001128209.1:c.790G>A NP_001121681.1:p.Val264Ile
XM_005265966.3:c.793G>A XP_005266023.1:p.Val265Ile
XM_006714911.2:c.793G>A XP_006714974.1:p.Val265Ile
XM_011534621.1:c.790G>A XP_011532923.1:p.Val264Ile
XM_005265966.5:c.793G>A XP_005266023.1:p.Val265Ile
XM_011534621.2:c.790G>A XP_011532923.1:p.Val264Ile
XM_017009723.2:c.793G>A XP_016865212.1:p.Val265Ile
XM_017009724.1:c.793G>A XP_016865213.1:p.Val265Ile
NM_001128209.2:c.790G>A NP_001121681.1:p.Val264Ile
NM_000337.6:c.793G>A MANE Select NP_000328.2:p.Val265Ile
Search 100 bp 5'
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