Canonical Allele Identifier: CA12586535
Gene: HECW1 HGNC NCBI
HECW1-IT1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.43118878G>A , CM000669.2:g.43118878G>A GRCh38
NC_000007.13:g.43158477G>A , CM000669.1:g.43158477G>A GRCh37
NC_000007.12:g.43125002G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395891.7:c.-32+4487G>A (HECW1) MANE Select ENSP00000379228.1:n.-32+4487G>A
ENST00000395891.6:c.-32+4487G>A (HECW1) ENSP00000379228.1:n.-32+4487G>A
ENST00000453890.5:c.-32+5941G>A (HECW1) ENSP00000407774.1:n.-32+5941G>A
ENST00000490954.2:n.309+5941G>A (HECW1)
ENST00000492310.5:n.651+4487G>A (HECW1)
NM_001287059.1:c.-32+5941G>A (HECW1) NP_001273988.1:n.-32+5941G>A
NM_015052.4:c.-32+4487G>A (HECW1) NP_055867.3:n.-32+4487G>A
XM_005249665.2:c.-32+5941G>A (HECW1) XP_005249722.1:n.-32+5941G>A
XM_006715670.2:c.30+5941G>A (HECW1) XP_006715733.1:n.30+5941G>A
XM_006715671.2:c.30+5941G>A (HECW1) XP_006715734.1:n.30+5941G>A
XM_006715673.2:c.30+5941G>A (HECW1) XP_006715736.1:n.30+5941G>A
XM_011515219.1:c.-32+4487G>A (HECW1) XP_011513521.1:n.-32+4487G>A
XM_011515221.1:c.-32+4487G>A (HECW1) XP_011513523.1:n.-32+4487G>A
XR_927209.1:n.187-69G>A (HECW1-IT1)
XR_927210.1:n.186+303G>A (HECW1-IT1)
NR_135295.1:n.681-69G>A (HECW1-IT1)
XM_005249665.4:c.-32+5941G>A (HECW1) XP_005249722.1:n.-32+5941G>A
XM_006715670.3:c.30+5941G>A (HECW1) XP_006715733.1:n.30+5941G>A
XM_006715671.3:c.30+5941G>A (HECW1) XP_006715734.1:n.30+5941G>A
XM_006715673.3:c.30+5941G>A (HECW1) XP_006715736.1:n.30+5941G>A
XM_017011882.1:c.123+4487G>A (HECW1) XP_016867371.1:n.123+4487G>A
XM_017011883.2:c.123+4487G>A (HECW1) XP_016867372.1:n.123+4487G>A
XM_017011884.1:c.123+4487G>A (HECW1) XP_016867373.1:n.123+4487G>A
XM_017011885.1:c.-32+4487G>A (HECW1) XP_016867374.1:n.-32+4487G>A
XM_017011886.1:c.-32+5941G>A (HECW1) XP_016867375.1:n.-32+5941G>A
XM_017011887.1:c.123+4487G>A (HECW1) XP_016867376.1:n.123+4487G>A
XM_017011888.1:c.123+4487G>A (HECW1) XP_016867377.1:n.123+4487G>A
XM_017011889.1:c.-32+4487G>A (HECW1) XP_016867378.1:n.-32+4487G>A
XM_017011890.1:c.-32+5941G>A (HECW1) XP_016867379.1:n.-32+5941G>A
NM_015052.5:c.-32+4487G>A (HECW1) MANE Select NP_055867.3:n.-32+4487G>A
NM_001287059.2:c.-32+5941G>A (HECW1) NP_001273988.1:n.-32+5941G>A
Search 100 bp 5'
Search 100 bp 3'