Canonical Allele Identifier: CA430964573
Gene: CRYGD HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.208988845G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208124121G>T , CM000664.2:g.208124121G>T GRCh38
NC_000002.11:g.208988845G>T , CM000664.1:g.208988845G>T GRCh37
NC_000002.10:g.208697090G>T NCBI36
NG_008039.1:g.5469C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264376.5:c.243C>A MANE Select ENSP00000264376.4:p.Leu81=
ENST00000264376.4:c.243C>A ENSP00000264376.4:p.Leu81=
NM_006891.3:c.243C>A NP_008822.2:p.Leu81=
NR_038437.1:n.97+4896G>T
NM_006891.4:c.243C>A MANE Select NP_008822.2:p.Leu81=