Canonical Allele Identifier: CA15381519
Gene: EFNA5 HGNC NCBI
dbSNP:
10074258
gnomAD v2:
5:106982560 C / T
gnomAD v3:
5:107646859 C / T
gnomAD v4:
chr5-107646859-C-T
Joint Max Group AF 0.52240377 (SAS)
Genomes Max Group AF 0.52240377 (SAS)
MyVariant.info:
GRCh38 chr5:g.107646859C>T
GRCh37 chr5:g.106982560C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.107646859C>T , CM000667.2:g.107646859C>T GRCh38
NC_000005.9:g.106982560C>T , CM000667.1:g.106982560C>T GRCh37
NC_000005.8:g.107010459C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000333274.11:c.125+23630G>A MANE Select ENSP00000328777.6:n.125+23630G>A
ENST00000333274.10:c.125+23630G>A ENSP00000328777.6:n.125+23630G>A
ENST00000504941.1:n.397+23630G>A
ENST00000509503.1:c.125+23630G>A ENSP00000426989.1:n.125+23630G>A
NM_001962.2:c.125+23630G>A NP_001953.1:n.125+23630G>A
XM_006714565.1:c.125+23630G>A XP_006714628.1:n.125+23630G>A
XM_006714565.3:c.125+23630G>A XP_006714628.1:n.125+23630G>A
NM_001962.3:c.125+23630G>A MANE Select NP_001953.1:n.125+23630G>A
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