Canonical Allele Identifier: CA362010383
Gene: SGCD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156594964T>G , CM000667.2:g.156594964T>G GRCh38
NC_000005.9:g.156021974T>G , CM000667.1:g.156021974T>G GRCh37
NC_000005.8:g.155954552T>G NCBI36
NG_008693.2:g.729621T>G , LRG_205:g.729621T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.415T>G MANE Select ENSP00000338343.4:p.Phe139Val
ENST00000337851.8:c.415T>G ENSP00000338343.4:p.Phe139Val
ENST00000435422.7:c.412T>G ENSP00000403003.2:p.Phe138Val
ENST00000517913.5:c.415T>G ENSP00000429378.1:p.Phe139Val
NM_000337.5:c.415T>G , LRG_205t1:c.415T>G NP_000328.2:p.Phe139Val
NM_001128209.1:c.412T>G NP_001121681.1:p.Phe138Val
NM_172244.2:c.415T>G NP_758447.1:p.Phe139Val
XM_005265966.3:c.415T>G XP_005266023.1:p.Phe139Val
XM_005265967.1:c.415T>G XP_005266024.1:p.Phe139Val
XM_006714911.2:c.415T>G XP_006714974.1:p.Phe139Val
XM_011534621.1:c.412T>G XP_011532923.1:p.Phe138Val
XM_005265966.5:c.415T>G XP_005266023.1:p.Phe139Val
XM_005265967.2:c.415T>G XP_005266024.1:p.Phe139Val
XM_011534621.2:c.412T>G XP_011532923.1:p.Phe138Val
XM_017009723.2:c.415T>G XP_016865212.1:p.Phe139Val
XM_017009724.1:c.415T>G XP_016865213.1:p.Phe139Val
NM_001128209.2:c.412T>G NP_001121681.1:p.Phe138Val
NM_172244.3:c.415T>G NP_758447.1:p.Phe139Val
NM_000337.6:c.415T>G MANE Select NP_000328.2:p.Phe139Val