Canonical Allele Identifier: CA1116467979
Gene: CALB1 HGNC NCBI

Linked Data

dbSNP Id: rs1814764370
gnomAD v3: 8-90083165-A-T
gnomAD v4: 8-90083165-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.90083165A>T , CM000670.2:g.90083165A>T GRCh38
NC_000008.10:g.91095393A>T , CM000670.1:g.91095393A>T GRCh37
NC_000008.9:g.91164569A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000514406.2:c.-92-1063T>A ENSP00000430192.1:n.-92-1063T>A
ENST00000520613.5:c.-92-1063T>A ENSP00000430281.1:n.-92-1063T>A
ENST00000523716.5:c.-92-1063T>A ENSP00000429246.1:n.-92-1063T>A
Search 100 bp 5'
Search 100 bp 3'