Canonical Allele Identifier: CA814306235
Gene: JMY HGNC NCBI

Linked Data

dbSNP Id: rs1163914851
gnomAD v3: 5-79262017-A-T
gnomAD v4: 5-79262017-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79262017A>T , CM000667.2:g.79262017A>T GRCh38
NC_000005.9:g.78557840A>T , CM000667.1:g.78557840A>T GRCh37
NC_000005.8:g.78593596A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396137.5:c.1033-15893A>T MANE Select ENSP00000379441.4:n.1033-15893A>T
ENST00000396137.4:c.1033-15893A>T ENSP00000379441.4:n.1033-15893A>T
NM_152405.4:c.1033-15893A>T NP_689618.4:n.1033-15893A>T
XM_005248430.1:c.1033-15893A>T XP_005248487.1:n.1033-15893A>T
XM_011543155.1:c.1033-15893A>T XP_011541457.1:n.1033-15893A>T
XM_005248430.3:c.1033-15893A>T XP_005248487.1:n.1033-15893A>T
XM_011543155.3:c.1033-15893A>T XP_011541457.1:n.1033-15893A>T
NM_152405.5:c.1033-15893A>T MANE Select NP_689618.4:n.1033-15893A>T