Canonical Allele Identifier: CA408244367

Gene: JAG1

Linked Data

• MyVariant Identifiers: chr20:g.10654178T>G (hg19) ; chr20:g.10673530T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10673530T>G , CM000682.2:g.10673530T>G	GRCh38
NC_000020.10:g.10654178T>G , CM000682.1:g.10654178T>G	GRCh37
NC_000020.9:g.10602178T>G	NCBI36
NG_007496.1:g.5517A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.1A>C MANE Select	ENSP00000254958.4:p.Met1Leu
ENST00000254958.9:c.1A>C	ENSP00000254958.4:p.Met1Leu
NM_000214.2:c.1A>C	NP_000205.1:p.Met1Leu
NM_000214.3:c.1A>C MANE Select	NP_000205.1:p.Met1Leu