Canonical Allele Identifier: CA2632821148
Gene:

Linked Data

gnomAD v4: 16-31090819-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31090819C>A , CM000678.2:g.31090819C>A GRCh38
NC_000016.9:g.31102140C>A , CM000678.1:g.31102140C>A GRCh37
NC_000016.8:g.31009641C>A NCBI36
NG_011564.1:g.9137G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529564.1:c.283+2493G>T ENSP00000431371.1:n.283+2493G>T
ENST00000532364.1:c.173+3738G>T ENSP00000460316.1:n.173+3738G>T
ENST00000533518.5:c.407+273G>T
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