Canonical Allele Identifier: CA625422915
Gene: CRYBA1 HGNC NCBI

Linked Data

dbSNP Id: rs201195784
gnomAD v2: 17-27579059-C-A
gnomAD v4: 17-29252041-C-A
MyVariant Identifiers: chr17:g.27579059C>A (hg19) chr17:g.29252041C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29252041C>A , CM000679.2:g.29252041C>A GRCh38
NC_000017.10:g.27579059C>A , CM000679.1:g.27579059C>A GRCh37
NC_000017.9:g.24603185C>A NCBI36
NG_008037.1:g.10185C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225387.8:c.216-23C>A MANE Select ENSP00000225387.3:n.216-23C>A
ENST00000225387.7:c.216-23C>A ENSP00000225387.3:n.216-23C>A
ENST00000484605.1:c.206-1599C>A
NM_005208.4:c.216-23C>A NP_005199.2:n.216-23C>A
XM_017024198.1:c.519-23C>A XP_016879687.1:n.519-23C>A
NM_005208.5:c.216-23C>A MANE Select NP_005199.2:n.216-23C>A
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