Canonical Allele Identifier: CA2985143

Gene: HNRNPDL

Linked Data

• ClinVar Variation Id: 464379
• ClinVar RCV Id: RCV000552897 ; RCV004023981
• dbSNP Id: rs373042980
• ExAC: 4:83350731 A / G
• gnomAD v2: 4-83350731-A-G
• gnomAD v3: 4-82429578-A-G
• gnomAD v4: 4-82429578-A-G
• MyVariant Identifiers: chr4:g.83350731A>G (hg19) ; chr4:g.83350731_83350746delinsGGCTGCCGCGGCGGCC (hg19) ; chr4:g.82429578A>G (hg38) ; chr4:g.82429578_82429593delinsGGCTGCCGCGGCGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.82429578A>G , CM000666.2:g.82429578A>G	GRCh38
NC_000004.11:g.83350731A>G , CM000666.1:g.83350731A>G	GRCh37
NC_000004.10:g.83569755A>G	NCBI36
NG_029681.1:g.5648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295470.10:c.113T>C MANE Select	ENSP00000295470.5:p.Leu38Pro
ENST00000295470.9:c.113T>C	ENSP00000295470.5:p.Leu38Pro
ENST00000502762.4:c.113T>C	ENSP00000422040.1:p.Leu38Pro
ENST00000614627.4:c.113T>C	ENSP00000478723.1:p.Leu38Pro
ENST00000621267.4:c.113T>C	ENSP00000483254.1:p.Leu38Pro
ENST00000630114.2:c.-79-166T>C	ENSP00000486452.1:n.-79-166T>C
ENST00000630827.1:c.-79-166T>C	ENSP00000485954.1:n.-79-166T>C
NM_001207000.1:c.113T>C	NP_001193929.1:p.Leu38Pro
NM_031372.3:c.113T>C	NP_112740.1:p.Leu38Pro
NR_003249.2:n.648T>C
NM_031372.4:c.113T>C MANE Select	NP_112740.1:p.Leu38Pro