Canonical Allele Identifier: CA814306276
Gene: JMY HGNC NCBI

Linked Data

dbSNP Id: rs1217132867
gnomAD v3: 5-79262171-C-G
gnomAD v4: 5-79262171-C-G
MyVariant Identifiers: chr5:g.78557994C>G (hg19) chr5:g.79262171C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79262171C>G , CM000667.2:g.79262171C>G GRCh38
NC_000005.9:g.78557994C>G , CM000667.1:g.78557994C>G GRCh37
NC_000005.8:g.78593750C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396137.5:c.1033-15739C>G MANE Select ENSP00000379441.4:n.1033-15739C>G
ENST00000396137.4:c.1033-15739C>G ENSP00000379441.4:n.1033-15739C>G
NM_152405.4:c.1033-15739C>G NP_689618.4:n.1033-15739C>G
XM_005248430.1:c.1033-15739C>G XP_005248487.1:n.1033-15739C>G
XM_011543155.1:c.1033-15739C>G XP_011541457.1:n.1033-15739C>G
XM_005248430.3:c.1033-15739C>G XP_005248487.1:n.1033-15739C>G
XM_011543155.3:c.1033-15739C>G XP_011541457.1:n.1033-15739C>G
NM_152405.5:c.1033-15739C>G MANE Select NP_689618.4:n.1033-15739C>G
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