Canonical Allele Identifier: CA15821740
Gene: CATSPERB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91620369A>G , CM000676.2:g.91620369A>G GRCh38
NC_000014.8:g.92086713A>G , CM000676.1:g.92086713A>G GRCh37
NC_000014.7:g.91156466A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256343.8:c.2260+1239T>C MANE Select ENSP00000256343.3:n.2260+1239T>C
ENST00000256343.7:c.2260+1239T>C ENSP00000256343.3:n.2260+1239T>C
ENST00000557036.1:c.945+1239T>C ENSP00000451083.1:n.945+1239T>C
NM_024764.3:c.2260+1239T>C NP_079040.2:n.2260+1239T>C
NM_024764.4:c.2260+1239T>C MANE Select NP_079040.2:n.2260+1239T>C