Canonical Allele Identifier: CA10726832

Gene: DAB1

Linked Data

• dbSNP Id: rs10443245
• gnomAD v2: 1-58526416-G-A
• gnomAD v3: 1-58060744-G-A
• gnomAD v4: 1-58060744-G-A
• MyVariant Identifiers: chr1:g.58526416G>A (hg19) ; chr1:g.58060744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.58060744G>A , CM000663.2:g.58060744G>A	GRCh38
NC_000001.10:g.58526416G>A , CM000663.1:g.58526416G>A	GRCh37
NC_000001.9:g.58299004G>A	NCBI36
NG_046914.2:g.194804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485760.5:n.387+89767C>T
NM_021080.3:c.-374-176582C>T	NP_066566.3:n.-374-176582C>T
NM_001353980.1:c.-450-89879C>T	NP_001340909.1:n.-450-89879C>T
NM_021080.4:c.-374-176582C>T	NP_066566.3:n.-374-176582C>T
NM_021080.5:c.-374-176582C>T	NP_066566.3:n.-374-176582C>T
NM_001353980.2:c.-450-89879C>T	NP_001340909.1:n.-450-89879C>T
NM_001379461.1:c.-375+89767C>T	NP_001366390.1:n.-375+89767C>T
NM_001379462.1:c.-450-89879C>T	NP_001366391.1:n.-450-89879C>T