Canonical Allele Identifier: CA413322111
Gene: HEPH HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.66162755A>T
GRCh37 chrX:g.65382597A>T
Revel Score:
ENST00000519389 0.316
ClinVar RCV:
RCV004162575
ClinVar Variation:
2311900
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.66162755A>T , CM000685.2:g.66162755A>T GRCh38
NC_000023.10:g.65382597A>T , CM000685.1:g.65382597A>T GRCh37
NC_000023.9:g.65299322A>T NCBI36
NG_016265.1:g.5165A>T
NG_016265.2:g.5165A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000519389.6:c.-135A>T ENSP00000430620.2:n.-135A>T
ENST00000519389.5:c.28A>T ENSP00000430620.1:p.Ser10Cys
NM_138737.4:c.28A>T NP_620074.3:p.Ser10Cys
XM_011531073.1:c.28A>T XP_011529375.1:p.Ser10Cys
XM_011531074.1:c.28A>T XP_011529376.1:p.Ser10Cys
XM_011531075.1:c.28A>T XP_011529377.1:p.Ser10Cys
XM_011531073.3:c.28A>T XP_011529375.1:p.Ser10Cys
XM_011531074.2:c.28A>T XP_011529376.1:p.Ser10Cys
XM_011531075.2:c.28A>T XP_011529377.1:p.Ser10Cys
XM_017029998.2:c.28A>T XP_016885487.1:p.Ser10Cys
NM_138737.5:c.28A>T NP_620074.3:p.Ser10Cys
NM_138737.6:c.-135A>T NP_620074.4:n.-135A>T
Search 100 bp 5'
Search 100 bp 3'