Canonical Allele Identifier: CA966534949

Gene: EVL

Linked Data

• dbSNP Id: rs1595588863
• gnomAD v3: 14-100031608-T-G
• gnomAD v4: 14-100031608-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100031608T>G , CM000676.2:g.100031608T>G	GRCh38
NC_000014.8:g.100497945T>G , CM000676.1:g.100497945T>G	GRCh37
NC_000014.7:g.99567698T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402714.6:c.6-53079T>G	ENSP00000384720.2:n.6-53079T>G
ENST00000544450.6:c.23+11921T>G	ENSP00000437904.2:n.23+11921T>G
ENST00000554460.5:n.112+11921T>G
XM_005267749.2:c.23+11921T>G	XP_005267806.1:n.23+11921T>G
XM_011536827.1:c.23+11921T>G	XP_011535129.1:n.23+11921T>G
XM_011536828.1:c.23+11921T>G	XP_011535130.1:n.23+11921T>G
NM_001330221.1:c.6-53079T>G	NP_001317150.1:n.6-53079T>G
XM_005267749.3:c.23+11921T>G	XP_005267806.1:n.23+11921T>G
XM_011536828.2:c.23+11921T>G	XP_011535130.1:n.23+11921T>G
XM_017021363.2:c.23+11921T>G	XP_016876852.1:n.23+11921T>G
XR_001750355.1:n.717+11921T>G
XR_001750356.1:n.717+11921T>G
XR_001750357.2:n.717+11921T>G
XR_001750360.1:n.605-53079T>G
XR_001750362.1:n.717+11921T>G
XR_001750363.1:n.717+11921T>G
XR_001750364.1:n.717+11921T>G
XR_001750366.1:n.717+11921T>G
NM_001330221.2:c.6-53079T>G	NP_001317150.1:n.6-53079T>G