Canonical Allele Identifier: CA2985145

Gene: HNRNPDL

Linked Data

• ClinVar Variation Id: 464378
• ClinVar RCV Id: RCV000540408 ; RCV004023980
• dbSNP Id: rs911762606
• ExAC: 4:83350734 T / G
• gnomAD v2: 4-83350734-T-G
• gnomAD v3: 4-82429581-T-G
• gnomAD v4: 4-82429581-T-G
• MyVariant Identifiers: chr4:g.83350734T>G (hg19) ; chr4:g.83350734_83350743delinsGGCCGCGGCG (hg19) ; chr4:g.82429581T>G (hg38) ; chr4:g.82429581_82429590delinsGGCCGCGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.82429581T>G , CM000666.2:g.82429581T>G	GRCh38
NC_000004.11:g.83350734T>G , CM000666.1:g.83350734T>G	GRCh37
NC_000004.10:g.83569758T>G	NCBI36
NG_029681.1:g.5645A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295470.10:c.110A>C MANE Select	ENSP00000295470.5:p.Gln37Pro
ENST00000295470.9:c.110A>C	ENSP00000295470.5:p.Gln37Pro
ENST00000502762.4:c.110A>C	ENSP00000422040.1:p.Gln37Pro
ENST00000614627.4:c.110A>C	ENSP00000478723.1:p.Gln37Pro
ENST00000621267.4:c.110A>C	ENSP00000483254.1:p.Gln37Pro
ENST00000630114.2:c.-79-169A>C	ENSP00000486452.1:n.-79-169A>C
ENST00000630827.1:c.-79-169A>C	ENSP00000485954.1:n.-79-169A>C
NM_001207000.1:c.110A>C	NP_001193929.1:p.Gln37Pro
NM_031372.3:c.110A>C	NP_112740.1:p.Gln37Pro
NR_003249.2:n.645A>C
NM_031372.4:c.110A>C MANE Select	NP_112740.1:p.Gln37Pro