Canonical Allele Identifier: CA351712130
Gene: JAGN1 HGNC NCBI

Linked Data

gnomAD v4: 3-9890798-C-A
MyVariant Identifiers: chr3:g.9932482C>A (hg19) chr3:g.9890798C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9890798C>A , CM000665.2:g.9890798C>A GRCh38
NC_000003.11:g.9932482C>A , CM000665.1:g.9932482C>A GRCh37
NC_000003.10:g.9907482C>A NCBI36
NG_041779.1:g.5212C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000489724.2:c.76C>A ENSP00000497724.1:p.His26Asn
ENST00000647897.1:c.76C>A MANE Select ENSP00000496942.1:p.His26Asn
ENST00000307768.4:c.76C>A ENSP00000306106.4:p.His26Asn
ENST00000489724.1:n.166C>A
ENST00000616966.2:c.76C>A ENSP00000481606.1:p.His26Asn
NM_032492.3:c.76C>A NP_115881.3:p.His26Asn
NM_001363890.1:c.-193C>A NP_001350819.1:n.-193C>A
NM_032492.4:c.76C>A MANE Select NP_115881.3:p.His26Asn
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