Canonical Allele Identifier: CA355704381
Gene: CRYGS HGNC NCBI

Linked Data

gnomAD v4: 3-186539471-A-G
MyVariant Identifiers: chr3:g.186257260A>G (hg19) chr3:g.186539471A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186539471A>G , CM000665.2:g.186539471A>G GRCh38
NC_000003.11:g.186257260A>G , CM000665.1:g.186257260A>G GRCh37
NC_000003.10:g.187739954A>G NCBI36
NG_009829.1:g.9908T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307944.6:c.148T>C MANE Select ENSP00000312099.5:p.Tyr50His
ENST00000307944.5:c.148T>C ENSP00000312099.5:p.Tyr50His
ENST00000392499.6:c.148T>C ENSP00000376287.2:p.Tyr50His
ENST00000460288.1:n.1050T>C
NM_017541.2:c.148T>C NP_060011.1:p.Tyr50His
NM_017541.3:c.148T>C NP_060011.1:p.Tyr50His
NM_017541.4:c.148T>C MANE Select NP_060011.1:p.Tyr50His
Search 100 bp 5'
Search 100 bp 3'