Canonical Allele Identifier: CA625422912
Gene: CRYBA1 HGNC NCBI

Linked Data

dbSNP Id: rs1242591750
gnomAD v2: 17-27579054-A-G
gnomAD v3: 17-29252036-A-G
gnomAD v4: 17-29252036-A-G
MyVariant Identifiers: chr17:g.27579054A>G (hg19) chr17:g.29252036A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29252036A>G , CM000679.2:g.29252036A>G GRCh38
NC_000017.10:g.27579054A>G , CM000679.1:g.27579054A>G GRCh37
NC_000017.9:g.24603180A>G NCBI36
NG_008037.1:g.10180A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225387.8:c.216-28A>G MANE Select ENSP00000225387.3:n.216-28A>G
ENST00000225387.7:c.216-28A>G ENSP00000225387.3:n.216-28A>G
ENST00000484605.1:c.206-1604A>G
NM_005208.4:c.216-28A>G NP_005199.2:n.216-28A>G
XM_017024198.1:c.519-28A>G XP_016879687.1:n.519-28A>G
NM_005208.5:c.216-28A>G MANE Select NP_005199.2:n.216-28A>G
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