Canonical Allele Identifier: CA408239263
Gene: JAG1 HGNC NCBI

Linked Data

gnomAD v4: 20-10652500-T-C
MyVariant Identifiers: chr20:g.10633148T>C (hg19) chr20:g.10652500T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10652500T>C , CM000682.2:g.10652500T>C GRCh38
NC_000020.10:g.10633148T>C , CM000682.1:g.10633148T>C GRCh37
NC_000020.9:g.10581148T>C NCBI36
NG_007496.1:g.26547A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.854A>G MANE Select ENSP00000254958.4:p.Glu285Gly
ENST00000617965.2:n.223A>G
ENST00000254958.9:c.854A>G ENSP00000254958.4:p.Glu285Gly
ENST00000423891.6:n.720A>G
ENST00000617965.1:n.223A>G
NM_000214.2:c.854A>G NP_000205.1:p.Glu285Gly
NM_000214.3:c.854A>G MANE Select NP_000205.1:p.Glu285Gly
Search 100 bp 5'
Search 100 bp 3'