Canonical Allele Identifier: CA23200601

Gene: DAB1

Linked Data

• dbSNP Id: rs76377768
• gnomAD v2: 1-58546971-C-A
• gnomAD v3: 1-58081299-C-A
• gnomAD v4: 1-58081299-C-A
• MyVariant Identifiers: chr1:g.58546971C>A (hg19) ; chr1:g.58081299C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.58081299C>A , CM000663.2:g.58081299C>A	GRCh38
NC_000001.10:g.58546971C>A , CM000663.1:g.58546971C>A	GRCh37
NC_000001.9:g.58319559C>A	NCBI36
NG_046914.2:g.174249G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485760.5:n.387+69212G>T
NM_021080.3:c.-375+168941G>T	NP_066566.3:n.-375+168941G>T
NM_001353980.1:c.-450-110434G>T	NP_001340909.1:n.-450-110434G>T
NM_021080.4:c.-375+168941G>T	NP_066566.3:n.-375+168941G>T
NM_021080.5:c.-375+168941G>T	NP_066566.3:n.-375+168941G>T
NM_001353980.2:c.-450-110434G>T	NP_001340909.1:n.-450-110434G>T
NM_001379461.1:c.-375+69212G>T	NP_001366390.1:n.-375+69212G>T
NM_001379462.1:c.-450-110434G>T	NP_001366391.1:n.-450-110434G>T