Canonical Allele Identifier: CA132469
Gene: SGCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156759248C>T , CM000667.2:g.156759248C>T GRCh38
NC_000005.9:g.156186259C>T , CM000667.1:g.156186259C>T GRCh37
NC_000005.8:g.156118837C>T NCBI36
NG_008693.2:g.893906C>T , LRG_205:g.893906C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.731C>T MANE Select ENSP00000338343.4:p.Pro244Leu
ENST00000337851.8:c.731C>T ENSP00000338343.4:p.Pro244Leu
ENST00000435422.7:c.728C>T ENSP00000403003.2:p.Pro243Leu
NM_000337.5:c.731C>T , LRG_205t1:c.731C>T NP_000328.2:p.Pro244Leu
NM_001128209.1:c.728C>T NP_001121681.1:p.Pro243Leu
XM_005265966.3:c.731C>T XP_005266023.1:p.Pro244Leu
XM_006714911.2:c.731C>T XP_006714974.1:p.Pro244Leu
XM_011534621.1:c.728C>T XP_011532923.1:p.Pro243Leu
XM_005265966.5:c.731C>T XP_005266023.1:p.Pro244Leu
XM_011534621.2:c.728C>T XP_011532923.1:p.Pro243Leu
XM_017009723.2:c.731C>T XP_016865212.1:p.Pro244Leu
XM_017009724.1:c.731C>T XP_016865213.1:p.Pro244Leu
NM_001128209.2:c.728C>T NP_001121681.1:p.Pro243Leu
NM_000337.6:c.731C>T MANE Select NP_000328.2:p.Pro244Leu