Canonical Allele Identifier: CA1077874276
Gene: JMY HGNC NCBI

Linked Data

dbSNP Id: rs1745440862
gnomAD v3: 5-79262072-G-A
gnomAD v4: 5-79262072-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79262072G>A , CM000667.2:g.79262072G>A GRCh38
NC_000005.9:g.78557895G>A , CM000667.1:g.78557895G>A GRCh37
NC_000005.8:g.78593651G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396137.5:c.1033-15838G>A MANE Select ENSP00000379441.4:n.1033-15838G>A
ENST00000396137.4:c.1033-15838G>A ENSP00000379441.4:n.1033-15838G>A
NM_152405.4:c.1033-15838G>A NP_689618.4:n.1033-15838G>A
XM_005248430.1:c.1033-15838G>A XP_005248487.1:n.1033-15838G>A
XM_011543155.1:c.1033-15838G>A XP_011541457.1:n.1033-15838G>A
XM_005248430.3:c.1033-15838G>A XP_005248487.1:n.1033-15838G>A
XM_011543155.3:c.1033-15838G>A XP_011541457.1:n.1033-15838G>A
NM_152405.5:c.1033-15838G>A MANE Select NP_689618.4:n.1033-15838G>A
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