Canonical Allele Identifier: CA121704233

Gene: JMY

Linked Data

• dbSNP Id: rs567798127
• gnomAD v3: 5-79262068-T-C
• gnomAD v4: 5-79262068-T-C
• MyVariant Identifiers: chr5:g.78557891T>C (hg19) ; chr5:g.79262068T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79262068T>C , CM000667.2:g.79262068T>C	GRCh38
NC_000005.9:g.78557891T>C , CM000667.1:g.78557891T>C	GRCh37
NC_000005.8:g.78593647T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396137.5:c.1033-15842T>C MANE Select	ENSP00000379441.4:n.1033-15842T>C
ENST00000396137.4:c.1033-15842T>C	ENSP00000379441.4:n.1033-15842T>C
NM_152405.4:c.1033-15842T>C	NP_689618.4:n.1033-15842T>C
XM_005248430.1:c.1033-15842T>C	XP_005248487.1:n.1033-15842T>C
XM_011543155.1:c.1033-15842T>C	XP_011541457.1:n.1033-15842T>C
XM_005248430.3:c.1033-15842T>C	XP_005248487.1:n.1033-15842T>C
XM_011543155.3:c.1033-15842T>C	XP_011541457.1:n.1033-15842T>C
NM_152405.5:c.1033-15842T>C MANE Select	NP_689618.4:n.1033-15842T>C