Canonical Allele Identifier: CA14022953
Gene: CATSPERB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91622511A>G , CM000676.2:g.91622511A>G GRCh38
NC_000014.8:g.92088855A>G , CM000676.1:g.92088855A>G GRCh37
NC_000014.7:g.91158608A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256343.8:c.1931-574T>C MANE Select ENSP00000256343.3:n.1931-574T>C
ENST00000256343.7:c.1931-574T>C ENSP00000256343.3:n.1931-574T>C
ENST00000557036.1:c.616-574T>C ENSP00000451083.1:n.616-574T>C
NM_024764.3:c.1931-574T>C NP_079040.2:n.1931-574T>C
NM_024764.4:c.1931-574T>C MANE Select NP_079040.2:n.1931-574T>C