Canonical Allele Identifier: CA121704245
Gene: JMY HGNC NCBI

Linked Data

dbSNP Id: rs987507998
gnomAD v3: 5-79262161-T-C
gnomAD v4: 5-79262161-T-C
MyVariant Identifiers: chr5:g.78557984T>C (hg19) chr5:g.79262161T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79262161T>C , CM000667.2:g.79262161T>C GRCh38
NC_000005.9:g.78557984T>C , CM000667.1:g.78557984T>C GRCh37
NC_000005.8:g.78593740T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000396137.5:c.1033-15749T>C MANE Select ENSP00000379441.4:n.1033-15749T>C
ENST00000396137.4:c.1033-15749T>C ENSP00000379441.4:n.1033-15749T>C
NM_152405.4:c.1033-15749T>C NP_689618.4:n.1033-15749T>C
XM_005248430.1:c.1033-15749T>C XP_005248487.1:n.1033-15749T>C
XM_011543155.1:c.1033-15749T>C XP_011541457.1:n.1033-15749T>C
XM_005248430.3:c.1033-15749T>C XP_005248487.1:n.1033-15749T>C
XM_011543155.3:c.1033-15749T>C XP_011541457.1:n.1033-15749T>C
NM_152405.5:c.1033-15749T>C MANE Select NP_689618.4:n.1033-15749T>C
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