Canonical Allele Identifier: CA124716371

Gene: EFNA5

Linked Data

• dbSNP Id: rs1030816721
• gnomAD v3: 5-107646735-G-A
• gnomAD v4: 5-107646735-G-A
• MyVariant Identifiers: chr5:g.106982436G>A (hg19) ; chr5:g.107646735G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.107646735G>A , CM000667.2:g.107646735G>A	GRCh38
NC_000005.9:g.106982436G>A , CM000667.1:g.106982436G>A	GRCh37
NC_000005.8:g.107010335G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000333274.11:c.125+23754C>T MANE Select	ENSP00000328777.6:n.125+23754C>T
ENST00000333274.10:c.125+23754C>T	ENSP00000328777.6:n.125+23754C>T
ENST00000504941.1:n.397+23754C>T
ENST00000509503.1:c.125+23754C>T	ENSP00000426989.1:n.125+23754C>T
NM_001962.2:c.125+23754C>T	NP_001953.1:n.125+23754C>T
XM_006714565.1:c.125+23754C>T	XP_006714628.1:n.125+23754C>T
XM_006714565.3:c.125+23754C>T	XP_006714628.1:n.125+23754C>T
NM_001962.3:c.125+23754C>T MANE Select	NP_001953.1:n.125+23754C>T