Canonical Allele Identifier: CA323195319
Gene: CASTOR1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30285268C>T , CM000684.2:g.30285268C>T GRCh38
NC_000022.10:g.30681257C>T , CM000684.1:g.30681257C>T GRCh37
NC_000022.9:g.29011257C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000407689.8:c.*352G>A MANE Select ENSP00000384183.4:n.*352G>A
ENST00000330168.9:c.1944G>A ENSP00000331267.5:n.1944G>A
ENST00000404953.7:c.*352G>A ENSP00000385868.3:n.*352G>A
ENST00000407689.7:c.*352G>A ENSP00000384183.3:n.*352G>A
ENST00000418047.5:c.1760G>A ENSP00000400319.1:n.1760G>A
ENST00000434291.5:c.1795G>A ENSP00000401535.1:n.1795G>A
ENST00000434987.5:c.1781G>A ENSP00000415854.1:n.1781G>A
ENST00000447976.1:c.1830G>A ENSP00000406516.1:n.1830G>A
ENST00000459785.1:n.251G>A
NM_001037666.2:c.*352G>A NP_001032755.1:n.*352G>A
NM_001037666.3:c.*352G>A MANE Select NP_001032755.1:n.*352G>A