Canonical Allele Identifier: CA10771494

Gene: DAB1

Linked Data

• dbSNP Id: rs6699475
• gnomAD v2: 1-58371309-G-A
• gnomAD v3: 1-57905637-G-A
• gnomAD v4: 1-57905637-G-A
• MyVariant Identifiers: chr1:g.58371309G>A (hg19) ; chr1:g.57905637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.57905637G>A , CM000663.2:g.57905637G>A	GRCh38
NC_000001.10:g.58371309G>A , CM000663.1:g.58371309G>A	GRCh37
NC_000001.9:g.58143897G>A	NCBI36
NG_046914.2:g.349911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485760.5:n.388-21475C>T
NM_021080.3:c.-374-21475C>T	NP_066566.3:n.-374-21475C>T
NM_001353980.1:c.-374-21475C>T	NP_001340909.1:n.-374-21475C>T
NM_021080.4:c.-374-21475C>T	NP_066566.3:n.-374-21475C>T
NM_021080.5:c.-374-21475C>T	NP_066566.3:n.-374-21475C>T
NM_001353980.2:c.-374-21475C>T	NP_001340909.1:n.-374-21475C>T
NM_001379461.1:c.-374-21475C>T	NP_001366390.1:n.-374-21475C>T
NM_001379462.1:c.-374-21475C>T	NP_001366391.1:n.-374-21475C>T