Canonical Allele Identifier: CA966534963

Gene: EVL

Linked Data

• dbSNP Id: rs2061316344
• gnomAD v3: 14-100031639-C-T
• gnomAD v4: 14-100031639-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100031639C>T , CM000676.2:g.100031639C>T	GRCh38
NC_000014.8:g.100497976C>T , CM000676.1:g.100497976C>T	GRCh37
NC_000014.7:g.99567729C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402714.6:c.6-53048C>T	ENSP00000384720.2:n.6-53048C>T
ENST00000544450.6:c.23+11952C>T	ENSP00000437904.2:n.23+11952C>T
ENST00000554460.5:n.112+11952C>T
XM_005267749.2:c.23+11952C>T	XP_005267806.1:n.23+11952C>T
XM_011536827.1:c.23+11952C>T	XP_011535129.1:n.23+11952C>T
XM_011536828.1:c.23+11952C>T	XP_011535130.1:n.23+11952C>T
NM_001330221.1:c.6-53048C>T	NP_001317150.1:n.6-53048C>T
XM_005267749.3:c.23+11952C>T	XP_005267806.1:n.23+11952C>T
XM_011536828.2:c.23+11952C>T	XP_011535130.1:n.23+11952C>T
XM_017021363.2:c.23+11952C>T	XP_016876852.1:n.23+11952C>T
XR_001750355.1:n.717+11952C>T
XR_001750356.1:n.717+11952C>T
XR_001750357.2:n.717+11952C>T
XR_001750360.1:n.605-53048C>T
XR_001750362.1:n.717+11952C>T
XR_001750363.1:n.717+11952C>T
XR_001750364.1:n.717+11952C>T
XR_001750366.1:n.717+11952C>T
NM_001330221.2:c.6-53048C>T	NP_001317150.1:n.6-53048C>T