Canonical Allele Identifier: CA145192
Gene: CRYBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 68472
ClinVar RCV Id: RCV000059343 RCV000245606
dbSNP Id: rs117757092
ExAC: 17:27580775 G / A
gnomAD v2: 17-27580775-G-A
gnomAD v3: 17-29253757-G-A
gnomAD v4: 17-29253757-G-A
MyVariant Identifiers: chr17:g.27580775G>A (hg19) chr17:g.29253757G>A (hg38)
PubMed: PMID:24281366
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29253757G>A , CM000679.2:g.29253757G>A GRCh38
NC_000017.10:g.27580775G>A , CM000679.1:g.27580775G>A GRCh37
NC_000017.9:g.24604901G>A NCBI36
NG_008037.1:g.11901G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225387.8:c.475G>A MANE Select ENSP00000225387.3:p.Gly159Ser
ENST00000225387.7:c.475G>A ENSP00000225387.3:p.Gly159Ser
ENST00000484605.1:c.323G>A
NM_005208.4:c.475G>A NP_005199.2:p.Gly159Ser
XM_017024198.1:c.778G>A XP_016879687.1:p.Gly260Ser
NM_005208.5:c.475G>A MANE Select NP_005199.2:p.Gly159Ser
Search 100 bp 5'
Search 100 bp 3'