Canonical Allele Identifier: CA2632821151
Gene:

Linked Data

gnomAD v4: 16-31090821-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31090821C>G , CM000678.2:g.31090821C>G GRCh38
NC_000016.9:g.31102142C>G , CM000678.1:g.31102142C>G GRCh37
NC_000016.8:g.31009643C>G NCBI36
NG_011564.1:g.9135G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000529564.1:c.283+2491G>C ENSP00000431371.1:n.283+2491G>C
ENST00000532364.1:c.173+3736G>C ENSP00000460316.1:n.173+3736G>C
ENST00000533518.5:c.407+271G>C
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