Canonical Allele Identifier: CA291170
Gene: HLCS HGNC NCBI

Linked Data

ClinVar Variation Id: 137545
dbSNP Id: rs148709879

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.36759812G>A , CM000683.2:g.36759812G>A GRCh38
NC_000021.8:g.38132113G>A , CM000683.1:g.38132113G>A GRCh37
NC_000021.7:g.37053983G>A NCBI36
NG_016193.1:g.235424C>T
NG_016193.2:g.235583C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000674895.2:c.1710C>T ENSP00000502087.1:p.Asn570=
ENST00000675057.1:c.1710C>T ENSP00000501832.1:p.Asn570=
ENST00000675307.1:c.1710C>T ENSP00000501750.1:p.Asn570=
ENST00000336648.8:c.1710C>T ENSP00000338387.3:p.Asn570=
ENST00000399120.5:c.1710C>T ENSP00000382071.1:p.Asn570=
ENST00000612277.4:c.1710C>T ENSP00000479939.1:p.Asn570=
NM_000411.6:c.1710C>T NP_000402.3:p.Asn570=
NM_001242784.1:c.1710C>T NP_001229713.1:p.Asn570=
NM_001242785.1:c.1710C>T NP_001229714.1:p.Asn570=
XM_005260953.2:c.2151C>T XP_005261010.1:p.Asn717=
XM_005260954.1:c.2151C>T XP_005261011.1:p.Asn717=
XM_005260955.2:c.1710C>T XP_005261012.1:p.Asn570=
XM_005260956.2:c.1710C>T XP_005261013.1:p.Asn570=
XM_006723994.1:c.1710C>T XP_006724057.1:p.Asn570=
XM_006723995.1:c.1710C>T XP_006724058.1:p.Asn570=
XM_011529538.1:c.1710C>T XP_011527840.1:p.Asn570=
XM_011529539.1:c.1710C>T XP_011527841.1:p.Asn570=
XM_011529541.1:c.1710C>T XP_011527843.1:p.Asn570=
NM_000411.7:c.1710C>T NP_000402.3:p.Asn570=
NM_001242784.2:c.1710C>T NP_001229713.1:p.Asn570=
NM_001242785.2:c.1710C>T NP_001229714.1:p.Asn570=
NM_001352514.1:c.2151C>T NP_001339443.1:p.Asn717=
NM_001352515.1:c.1710C>T NP_001339444.1:p.Asn570=
NM_001352516.1:c.1710C>T NP_001339445.1:p.Asn570=
NM_001352517.1:c.1710C>T NP_001339446.1:p.Asn570=
NM_001352518.1:c.1710C>T NP_001339447.1:p.Asn570=
NR_148020.1:n.2193C>T
NR_148021.1:n.2167C>T
XM_011529539.3:c.1710C>T XP_011527841.1:p.Asn570=
XM_017028330.1:c.1710C>T XP_016883819.1:p.Asn570=
XM_024452065.1:c.1539C>T XP_024307833.1:p.Asn513=
XM_024452066.1:c.1539C>T XP_024307834.1:p.Asn513=
XR_001754835.1:n.2152C>T
XR_001754836.1:n.1991C>T
XR_001754837.2:n.1991C>T
XR_001754840.1:n.2201C>T
NM_000411.8:c.1710C>T NP_000402.3:p.Asn570=
NM_001242784.3:c.1710C>T NP_001229713.1:p.Asn570=
NM_001352514.2:c.2151C>T MANE Select NP_001339443.1:p.Asn717=
NM_001352515.2:c.1710C>T NP_001339444.1:p.Asn570=
NM_001352516.2:c.1710C>T NP_001339445.1:p.Asn570=
NR_148020.2:n.2010C>T
NM_001352518.2:c.1710C>T NP_001339447.1:p.Asn570=