Canonical Allele Identifier: CA342649066
Gene: EFNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155133763A>T , CM000663.2:g.155133763A>T GRCh38
NC_000001.10:g.155106239A>T , CM000663.1:g.155106239A>T GRCh37
NC_000001.9:g.153372863A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368407.8:c.488A>T MANE Select ENSP00000357392.3:p.Glu163Val
ENST00000368406.2:c.422A>T ENSP00000357391.2:p.Glu141Val
ENST00000368407.7:c.488A>T ENSP00000357392.3:p.Glu163Val
ENST00000469878.5:n.739A>T
ENST00000474413.5:n.713A>T
ENST00000497282.1:n.531A>T
NM_004428.2:c.488A>T NP_004419.2:p.Glu163Val
NM_182685.1:c.422A>T NP_872626.1:p.Glu141Val
XM_005244940.3:c.299A>T XP_005244997.1:p.Glu100Val
NM_004428.3:c.488A>T MANE Select NP_004419.2:p.Glu163Val
NM_182685.2:c.422A>T NP_872626.1:p.Glu141Val