Canonical Allele Identifier: CA355704405
Gene: CRYGS HGNC NCBI

Linked Data

gnomAD v4: 3-186539477-C-A
MyVariant Identifiers: chr3:g.186257266C>A (hg19) chr3:g.186539477C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539477C>A , CM000665.2:g.186539477C>A GRCh38
NC_000003.11:g.186257266C>A , CM000665.1:g.186257266C>A GRCh37
NC_000003.10:g.187739960C>A NCBI36
NG_009829.1:g.9902G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.142G>T MANE Select ENSP00000312099.5:p.Ala48Ser
ENST00000307944.5:c.142G>T ENSP00000312099.5:p.Ala48Ser
ENST00000392499.6:c.142G>T ENSP00000376287.2:p.Ala48Ser
ENST00000460288.1:n.1044G>T
NM_017541.2:c.142G>T NP_060011.1:p.Ala48Ser
NM_017541.3:c.142G>T NP_060011.1:p.Ala48Ser
NM_017541.4:c.142G>T MANE Select NP_060011.1:p.Ala48Ser
Search 100 bp 5'
Search 100 bp 3'