Canonical Allele Identifier: CA126997
Gene: CRYGC HGNC NCBI

Linked Data

ClinVar Variation Id: 16943
ClinVar RCV Id: RCV000018452
dbSNP Id: rs104893618

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208129680T>G , CM000664.2:g.208129680T>G GRCh38
NC_000002.11:g.208994404T>G , CM000664.1:g.208994404T>G GRCh37
NC_000002.10:g.208702649T>G NCBI36
NG_008038.1:g.5151A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000282141.4:c.13A>C MANE Select ENSP00000282141.3:p.Thr5Pro
ENST00000282141.3:c.13A>C ENSP00000282141.3:p.Thr5Pro
NM_020989.3:c.13A>C NP_066269.1:p.Thr5Pro
NR_038437.1:n.98-7376T>G
XM_011510661.1:c.13A>C XP_011508963.1:p.Thr5Pro
XM_011510662.1:c.13A>C XP_011508964.1:p.Thr5Pro
XM_011510663.1:c.-117A>C XP_011508965.1:n.-117A>C
NM_020989.4:c.13A>C MANE Select NP_066269.1:p.Thr5Pro