Canonical Allele Identifier: CA362010288
Gene: SGCD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156594949G>A , CM000667.2:g.156594949G>A GRCh38
NC_000005.9:g.156021959G>A , CM000667.1:g.156021959G>A GRCh37
NC_000005.8:g.155954537G>A NCBI36
NG_008693.2:g.729606G>A , LRG_205:g.729606G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000337851.9:c.400G>A MANE Select ENSP00000338343.4:p.Ala134Thr
ENST00000337851.8:c.400G>A ENSP00000338343.4:p.Ala134Thr
ENST00000435422.7:c.397G>A ENSP00000403003.2:p.Ala133Thr
ENST00000517913.5:c.400G>A ENSP00000429378.1:p.Ala134Thr
NM_000337.5:c.400G>A , LRG_205t1:c.400G>A NP_000328.2:p.Ala134Thr
NM_001128209.1:c.397G>A NP_001121681.1:p.Ala133Thr
NM_172244.2:c.400G>A NP_758447.1:p.Ala134Thr
XM_005265966.3:c.400G>A XP_005266023.1:p.Ala134Thr
XM_005265967.1:c.400G>A XP_005266024.1:p.Ala134Thr
XM_006714911.2:c.400G>A XP_006714974.1:p.Ala134Thr
XM_011534621.1:c.397G>A XP_011532923.1:p.Ala133Thr
XM_005265966.5:c.400G>A XP_005266023.1:p.Ala134Thr
XM_005265967.2:c.400G>A XP_005266024.1:p.Ala134Thr
XM_011534621.2:c.397G>A XP_011532923.1:p.Ala133Thr
XM_017009723.2:c.400G>A XP_016865212.1:p.Ala134Thr
XM_017009724.1:c.400G>A XP_016865213.1:p.Ala134Thr
NM_001128209.2:c.397G>A NP_001121681.1:p.Ala133Thr
NM_172244.3:c.400G>A NP_758447.1:p.Ala134Thr
NM_000337.6:c.400G>A MANE Select NP_000328.2:p.Ala134Thr