Canonical Allele Identifier: CA362007672

Gene: SGCD

Linked Data

• ClinVar Variation Id: 449614
• ClinVar RCV Id: RCV000522372
• dbSNP Id: rs121909296
• MyVariant Identifiers: chr5:g.155771584G>C (hg19) ; chr5:g.156344574G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156344574G>C , CM000667.2:g.156344574G>C	GRCh38
NC_000005.9:g.155771584G>C , CM000667.1:g.155771584G>C	GRCh37
NC_000005.8:g.155704162G>C	NCBI36
NG_008693.2:g.479231G>C , LRG_205:g.479231G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337851.9:c.89G>C MANE Select	ENSP00000338343.4:p.Trp30Ser
ENST00000337851.8:c.89G>C	ENSP00000338343.4:p.Trp30Ser
ENST00000435422.7:c.86G>C	ENSP00000403003.2:p.Trp29Ser
ENST00000517913.5:c.89G>C	ENSP00000429378.1:p.Trp30Ser
ENST00000524347.2:c.89G>C	ENSP00000430794.1:p.Trp30Ser
NM_000337.5:c.89G>C , LRG_205t1:c.89G>C	NP_000328.2:p.Trp30Ser
NM_001128209.1:c.86G>C	NP_001121681.1:p.Trp29Ser
NM_172244.2:c.89G>C	NP_758447.1:p.Trp30Ser
XM_005265966.3:c.89G>C	XP_005266023.1:p.Trp30Ser
XM_005265967.1:c.89G>C	XP_005266024.1:p.Trp30Ser
XM_006714911.2:c.89G>C	XP_006714974.1:p.Trp30Ser
XM_011534621.1:c.86G>C	XP_011532923.1:p.Trp29Ser
XR_941123.1:n.254+2879C>G
XM_005265966.5:c.89G>C	XP_005266023.1:p.Trp30Ser
XM_005265967.2:c.89G>C	XP_005266024.1:p.Trp30Ser
XM_011534621.2:c.86G>C	XP_011532923.1:p.Trp29Ser
XM_017009723.2:c.89G>C	XP_016865212.1:p.Trp30Ser
XM_017009724.1:c.89G>C	XP_016865213.1:p.Trp30Ser
NM_001128209.2:c.86G>C	NP_001121681.1:p.Trp29Ser
NM_172244.3:c.89G>C	NP_758447.1:p.Trp30Ser
NM_000337.6:c.89G>C MANE Select	NP_000328.2:p.Trp30Ser