Canonical Allele Identifier: CA430964585
Gene: CRYGD HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208988860G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124136G>T , CM000664.2:g.208124136G>T GRCh38
NC_000002.11:g.208988860G>T , CM000664.1:g.208988860G>T GRCh37
NC_000002.10:g.208697105G>T NCBI36
NG_008039.1:g.5454C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.228C>A MANE Select ENSP00000264376.4:p.Val76=
ENST00000264376.4:c.228C>A ENSP00000264376.4:p.Val76=
NM_006891.3:c.228C>A NP_008822.2:p.Val76=
NR_038437.1:n.97+4911G>T
NM_006891.4:c.228C>A MANE Select NP_008822.2:p.Val76=