Canonical Allele Identifier: CA228342921

Gene: ELMOD1

Linked Data

• dbSNP Id: rs994710739
• gnomAD v2: 11-107481537-T-C
• gnomAD v3: 11-107610811-T-C
• gnomAD v4: 11-107610811-T-C
• MyVariant Identifiers: chr11:g.107481537T>C (hg19) ; chr11:g.107610811T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.107610811T>C , CM000673.2:g.107610811T>C	GRCh38
NC_000011.9:g.107481537T>C , CM000673.1:g.107481537T>C	GRCh37
NC_000011.8:g.106986747T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000265840.12:c.-85-7294T>C MANE Select	ENSP00000265840.7:n.-85-7294T>C
ENST00000265840.11:c.-85-7294T>C	ENSP00000265840.7:n.-85-7294T>C
ENST00000443271.2:c.-85-7294T>C	ENSP00000412257.2:n.-85-7294T>C
ENST00000524378.5:n.5-7294T>C
ENST00000527036.1:n.105-7294T>C
ENST00000531234.5:c.-239-7294T>C	ENSP00000433232.1:n.-239-7294T>C
NM_001130037.1:c.-85-7294T>C	NP_001123509.1:n.-85-7294T>C
NM_001308018.1:c.-239-7294T>C	NP_001294947.1:n.-239-7294T>C
NM_018712.3:c.-85-7294T>C	NP_061182.3:n.-85-7294T>C
XM_017017994.2:c.-239-7294T>C	XP_016873483.1:n.-239-7294T>C
XM_017017995.2:c.-141-7294T>C	XP_016873484.1:n.-141-7294T>C
NM_018712.4:c.-85-7294T>C MANE Select	NP_061182.3:n.-85-7294T>C
NM_001130037.2:c.-85-7294T>C	NP_001123509.1:n.-85-7294T>C
NM_001308018.2:c.-239-7294T>C	NP_001294947.1:n.-239-7294T>C