Canonical Allele Identifier: CA408240290

Gene: JAG1

Linked Data

• MyVariant Identifiers: chr20:g.10639256A>G (hg19) ; chr20:g.10658608A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658608A>G , CM000682.2:g.10658608A>G	GRCh38
NC_000020.10:g.10639256A>G , CM000682.1:g.10639256A>G	GRCh37
NC_000020.9:g.10587256A>G	NCBI36
NG_007496.1:g.20439T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.554T>C MANE Select	ENSP00000254958.4:p.Val185Ala
ENST00000254958.9:c.554T>C	ENSP00000254958.4:p.Val185Ala
ENST00000423891.6:n.420T>C
NM_000214.2:c.554T>C	NP_000205.1:p.Val185Ala
NM_000214.3:c.554T>C MANE Select	NP_000205.1:p.Val185Ala