Canonical Allele Identifier: CA1083315848
Gene: SGCD HGNC NCBI

Linked Data

dbSNP Id: rs1757601614
gnomAD v3: 5-156766934-T-C
gnomAD v4: 5-156766934-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156766934T>C , CM000667.2:g.156766934T>C GRCh38
NC_000005.9:g.156193945T>C , CM000667.1:g.156193945T>C GRCh37
NC_000005.8:g.156126523T>C NCBI36
NG_008693.2:g.901592T>C , LRG_205:g.901592T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000337851.9:c.*7544T>C MANE Select ENSP00000338343.4:n.*7544T>C
ENST00000435422.7:c.*7544T>C ENSP00000403003.2:n.*7544T>C
NM_000337.5:c.*7544T>C , LRG_205t1:c.*7544T>C NP_000328.2:n.*7544T>C
NM_001128209.1:c.*7544T>C NP_001121681.1:n.*7544T>C
XM_005265966.3:c.*7544T>C XP_005266023.1:n.*7544T>C
XM_006714911.2:c.*7544T>C XP_006714974.1:n.*7544T>C
XM_011534621.1:c.*7544T>C XP_011532923.1:n.*7544T>C
NM_001128209.2:c.*7544T>C NP_001121681.1:n.*7544T>C
NM_000337.6:c.*7544T>C MANE Select NP_000328.2:n.*7544T>C
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