Canonical Allele Identifier: CA362010417
Gene: SGCD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156594970G>A , CM000667.2:g.156594970G>A GRCh38
NC_000005.9:g.156021980G>A , CM000667.1:g.156021980G>A GRCh37
NC_000005.8:g.155954558G>A NCBI36
NG_008693.2:g.729627G>A , LRG_205:g.729627G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.421G>A MANE Select ENSP00000338343.4:p.Val141Ile
ENST00000337851.8:c.421G>A ENSP00000338343.4:p.Val141Ile
ENST00000435422.7:c.418G>A ENSP00000403003.2:p.Val140Ile
ENST00000517913.5:c.421G>A ENSP00000429378.1:p.Val141Ile
NM_000337.5:c.421G>A , LRG_205t1:c.421G>A NP_000328.2:p.Val141Ile
NM_001128209.1:c.418G>A NP_001121681.1:p.Val140Ile
NM_172244.2:c.421G>A NP_758447.1:p.Val141Ile
XM_005265966.3:c.421G>A XP_005266023.1:p.Val141Ile
XM_005265967.1:c.421G>A XP_005266024.1:p.Val141Ile
XM_006714911.2:c.421G>A XP_006714974.1:p.Val141Ile
XM_011534621.1:c.418G>A XP_011532923.1:p.Val140Ile
XM_005265966.5:c.421G>A XP_005266023.1:p.Val141Ile
XM_005265967.2:c.421G>A XP_005266024.1:p.Val141Ile
XM_011534621.2:c.418G>A XP_011532923.1:p.Val140Ile
XM_017009723.2:c.421G>A XP_016865212.1:p.Val141Ile
XM_017009724.1:c.421G>A XP_016865213.1:p.Val141Ile
NM_001128209.2:c.418G>A NP_001121681.1:p.Val140Ile
NM_172244.3:c.421G>A NP_758447.1:p.Val141Ile
NM_000337.6:c.421G>A MANE Select NP_000328.2:p.Val141Ile