Canonical Allele Identifier: CA211665972
Gene:

Linked Data

dbSNP Id: rs142319531
gnomAD v2: 10-96522261-G-A
gnomAD v3: 10-94762504-G-A
gnomAD v4: 10-94762504-G-A
MyVariant Identifiers: chr10:g.96522261G>A (hg19) chr10:g.94762504G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762504G>A , CM000672.2:g.94762504G>A GRCh38
NC_000010.10:g.96522261G>A , CM000672.1:g.96522261G>A GRCh37
NC_000010.9:g.96512251G>A NCBI36
NG_008384.2:g.4799G>A
NG_008384.3:g.4824G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000464755.1:c.932-12554G>A ENSP00000483243.1:n.932-12554G>A
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