Canonical Allele Identifier: CA145192

Gene: CRYBA1

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

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