Canonical Allele Identifier: CA350097170
Gene: CRYGC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129559A>G , CM000664.2:g.208129559A>G GRCh38
NC_000002.11:g.208994283A>G , CM000664.1:g.208994283A>G GRCh37
NC_000002.10:g.208702528A>G NCBI36
NG_008038.1:g.5272T>C
NG_008039.1:g.31T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.134T>C MANE Select ENSP00000282141.3:p.Leu45Pro
ENST00000282141.3:c.134T>C ENSP00000282141.3:p.Leu45Pro
NM_020989.3:c.134T>C NP_066269.1:p.Leu45Pro
NR_038437.1:n.98-7497A>G
XM_011510661.1:c.134T>C XP_011508963.1:p.Leu45Pro
XM_011510662.1:c.134T>C XP_011508964.1:p.Leu45Pro
XM_011510663.1:c.5T>C XP_011508965.1:p.Leu2Pro
NM_020989.4:c.134T>C MANE Select NP_066269.1:p.Leu45Pro