Canonical Allele Identifier: CA121704241

Gene: JMY

Linked Data

• dbSNP Id: rs968682994
• gnomAD v2: 5-78557949-G-T
• gnomAD v3: 5-79262126-G-T
• gnomAD v4: 5-79262126-G-T
• MyVariant Identifiers: chr5:g.78557949G>T (hg19) ; chr5:g.79262126G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79262126G>T , CM000667.2:g.79262126G>T	GRCh38
NC_000005.9:g.78557949G>T , CM000667.1:g.78557949G>T	GRCh37
NC_000005.8:g.78593705G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000396137.5:c.1033-15784G>T MANE Select	ENSP00000379441.4:n.1033-15784G>T
ENST00000396137.4:c.1033-15784G>T	ENSP00000379441.4:n.1033-15784G>T
NM_152405.4:c.1033-15784G>T	NP_689618.4:n.1033-15784G>T
XM_005248430.1:c.1033-15784G>T	XP_005248487.1:n.1033-15784G>T
XM_011543155.1:c.1033-15784G>T	XP_011541457.1:n.1033-15784G>T
XM_005248430.3:c.1033-15784G>T	XP_005248487.1:n.1033-15784G>T
XM_011543155.3:c.1033-15784G>T	XP_011541457.1:n.1033-15784G>T
NM_152405.5:c.1033-15784G>T MANE Select	NP_689618.4:n.1033-15784G>T