Canonical Allele Identifier: CA259947
Gene: HEPACAM HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.124924890C>T
GRCh37 chr11:g.124794786C>T
Revel Score:
ENST00000298251 (MANE Select) 0.309
ENST00000374961 0.309
gnomAD v4:
chr11-124924890-C-T
Joint Max Group AF 0.00000124 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124924890C>T , CM000673.2:g.124924890C>T GRCh38
NC_000011.9:g.124794786C>T , CM000673.1:g.124794786C>T GRCh37
NC_000011.8:g.124299996C>T NCBI36
NG_029603.1:g.16523G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703807.1:c.265G>A ENSP00000515485.1:p.Gly89Ser
ENST00000298251.5:c.265G>A MANE Select ENSP00000298251.4:p.Gly89Ser
ENST00000298251.4:c.265G>A ENSP00000298251.4:p.Gly89Ser
ENST00000526273.1:n.37G>A
ENST00000528971.1:n.671G>A
NM_152722.4:c.265G>A NP_689935.2:p.Gly89Ser
XM_005271449.1:c.265G>A XP_005271506.1:p.Gly89Ser
XM_006718786.1:c.265G>A XP_006718849.1:p.Gly89Ser
XM_011542669.1:c.265G>A XP_011540971.1:p.Gly89Ser
XM_005271449.2:c.265G>A XP_005271506.1:p.Gly89Ser
XM_017017361.1:c.265G>A XP_016872850.1:p.Gly89Ser
XR_001748429.2:n.325-18510C>T
NM_152722.5:c.265G>A MANE Select NP_689935.2:p.Gly89Ser
Search 100 bp 5'
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