Canonical Allele Identifier: CA2602484694

Gene: EFNA5

Linked Data

• dbSNP Id: rs2112549462
• gnomAD v3: 5-107646854-T-C
• gnomAD v4: 5-107646854-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.107646854T>C , CM000667.2:g.107646854T>C	GRCh38
NC_000005.9:g.106982555T>C , CM000667.1:g.106982555T>C	GRCh37
NC_000005.8:g.107010454T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000333274.11:c.125+23635A>G MANE Select	ENSP00000328777.6:n.125+23635A>G
ENST00000333274.10:c.125+23635A>G	ENSP00000328777.6:n.125+23635A>G
ENST00000504941.1:n.397+23635A>G
ENST00000509503.1:c.125+23635A>G	ENSP00000426989.1:n.125+23635A>G
NM_001962.2:c.125+23635A>G	NP_001953.1:n.125+23635A>G
XM_006714565.1:c.125+23635A>G	XP_006714628.1:n.125+23635A>G
XM_006714565.3:c.125+23635A>G	XP_006714628.1:n.125+23635A>G
NM_001962.3:c.125+23635A>G MANE Select	NP_001953.1:n.125+23635A>G