Canonical Allele Identifier: CA350092549
Gene: CRYGD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124158C>A , CM000664.2:g.208124158C>A GRCh38
NC_000002.11:g.208988882C>A , CM000664.1:g.208988882C>A GRCh37
NC_000002.10:g.208697127C>A NCBI36
NG_008039.1:g.5432G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.206G>T MANE Select ENSP00000264376.4:p.Trp69Leu
ENST00000264376.4:c.206G>T ENSP00000264376.4:p.Trp69Leu
NM_006891.3:c.206G>T NP_008822.2:p.Trp69Leu
NR_038437.1:n.97+4933C>A
NM_006891.4:c.206G>T MANE Select NP_008822.2:p.Trp69Leu