Canonical Allele Identifier: CA359708209
Gene: EMB HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.50399862T>A
GRCh37 chr5:g.49695696T>A
Revel Score:
ENST00000303221 (MANE Select) 0.095
ENST00000510295 0.095
ENST00000508934 0.095
ENST00000514111 0.095
ClinVar RCV:
RCV004176746
ClinVar Variation:
2330270
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.50399862T>A , CM000667.2:g.50399862T>A GRCh38
NC_000005.9:g.49695696T>A , CM000667.1:g.49695696T>A GRCh37
NC_000005.8:g.49731453T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303221.10:c.963A>T MANE Select ENSP00000302289.5:p.Lys321Asn
ENST00000303221.9:c.963A>T ENSP00000302289.5:p.Lys321Asn
ENST00000505896.5:n.1382A>T
ENST00000508934.5:c.801A>T ENSP00000425215.1:p.Lys267Asn
ENST00000514111.1:c.813A>T ENSP00000426404.1:p.Lys271Asn
NM_198449.2:c.963A>T NP_940851.1:p.Lys321Asn
XM_011543146.1:c.813A>T XP_011541448.1:p.Lys271Asn
XM_011543146.2:c.813A>T XP_011541448.1:p.Lys271Asn
NM_198449.3:c.963A>T MANE Select NP_940851.1:p.Lys321Asn
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