Canonical Allele Identifier: CA278021
Gene: HLCS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1910
ClinVar RCV Id: RCV000001987
dbSNP Id: rs119103230

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36759781C>T , CM000683.2:g.36759781C>T GRCh38
NC_000021.7:g.37053952C>T NCBI36
NC_000021.8:g.38132082C>T , CM000683.1:g.38132082C>T GRCh37
NG_016193.1:g.235455G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000336648.8:c.1741G>A ENSP00000338387.3:p.Gly581Ser
ENST00000399120.5:c.1741G>A ENSP00000382071.1:p.Gly581Ser
ENST00000612277.4:c.1741G>A ENSP00000479939.1:p.Gly581Ser
NM_000411.6:c.1741G>A NP_000402.3:p.Gly581Ser
NM_001242784.1:c.1741G>A NP_001229713.1:p.Gly581Ser
NM_001242785.1:c.1741G>A NP_001229714.1:p.Gly581Ser
XM_005260953.2:c.2182G>A XP_005261010.1:p.Gly728Ser
XM_005260954.1:c.2182G>A XP_005261011.1:p.Gly728Ser
XM_005260955.2:c.1741G>A XP_005261012.1:p.Gly581Ser
XM_005260956.2:c.1741G>A XP_005261013.1:p.Gly581Ser
XM_006723994.1:c.1741G>A XP_006724057.1:p.Gly581Ser
XM_006723995.1:c.1741G>A XP_006724058.1:p.Gly581Ser
XM_011529538.1:c.1741G>A XP_011527840.1:p.Gly581Ser
XM_011529539.1:c.1741G>A XP_011527841.1:p.Gly581Ser
XM_011529541.1:c.1741G>A XP_011527843.1:p.Gly581Ser