Canonical Allele Identifier: CA351712093
Gene: JAGN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890792G>C , CM000665.2:g.9890792G>C GRCh38
NC_000003.11:g.9932476G>C , CM000665.1:g.9932476G>C GRCh37
NC_000003.10:g.9907476G>C NCBI36
NG_041779.1:g.5206G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000489724.2:c.70G>C ENSP00000497724.1:p.Ala24Pro
ENST00000647897.1:c.70G>C MANE Select ENSP00000496942.1:p.Ala24Pro
ENST00000307768.4:c.70G>C ENSP00000306106.4:p.Ala24Pro
ENST00000489724.1:n.160G>C
ENST00000616966.2:c.70G>C ENSP00000481606.1:p.Ala24Pro
NM_032492.3:c.70G>C NP_115881.3:p.Ala24Pro
NM_001363890.1:c.-199G>C NP_001350819.1:n.-199G>C
NM_032492.4:c.70G>C MANE Select NP_115881.3:p.Ala24Pro