Canonical Allele Identifier: CA749588210
Gene: CRYAA HGNC NCBI

Linked Data

dbSNP Id: rs1438545982
MyVariant Identifiers: chr21:g.43172037G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43172037G>A , CM000683.2:g.43172037G>A GRCh38
NG_009823.1:g.8007G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291554.6:c.313-34G>A MANE Select ENSP00000291554.2:n.313-34G>A
ENST00000398132.1:c.202-34G>A ENSP00000381200.1:n.202-34G>A
ENST00000398133.5:c.253-34G>A ENSP00000381201.1:n.253-34G>A
ENST00000468016.1:n.414-34G>A
ENST00000482775.1:n.394-34G>A
NM_000394.3:c.313-34G>A NP_000385.1:n.313-34G>A
XM_005261093.2:c.202-34G>A XP_005261150.1:n.202-34G>A
NM_001363766.1:c.202-34G>A NP_001350695.1:n.202-34G>A
NM_000394.4:c.313-34G>A MANE Select NP_000385.1:n.313-34G>A
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