Canonical Allele Identifier: CA350097101
Gene: CRYGC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129550C>A , CM000664.2:g.208129550C>A GRCh38
NC_000002.11:g.208994274C>A , CM000664.1:g.208994274C>A GRCh37
NC_000002.10:g.208702519C>A NCBI36
NG_008038.1:g.5281G>T
NG_008039.1:g.40G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282141.4:c.143G>T MANE Select ENSP00000282141.3:p.Arg48Leu
ENST00000282141.3:c.143G>T ENSP00000282141.3:p.Arg48Leu
NM_020989.3:c.143G>T NP_066269.1:p.Arg48Leu
NR_038437.1:n.98-7506C>A
XM_011510661.1:c.143G>T XP_011508963.1:p.Arg48Leu
XM_011510662.1:c.143G>T XP_011508964.1:p.Arg48Leu
XM_011510663.1:c.14G>T XP_011508965.1:p.Arg5Leu
NM_020989.4:c.143G>T MANE Select NP_066269.1:p.Arg48Leu