Canonical Allele Identifier: CA2216888491
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31090835C= , CM000678.2:g.31090835C= GRCh38
NC_000016.9:g.31102156C= , CM000678.1:g.31102156C= GRCh37
NC_000016.8:g.31009657C= NCBI36
NG_011564.1:g.9121G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000529564.1:c.283+2477G= ENSP00000431371.1:n.283+2477G=
ENST00000532364.1:c.173+3722G= ENSP00000460316.1:n.173+3722G=
ENST00000533518.5:c.407+257G=