Canonical Allele Identifier: CA749305583
Gene: IGSF5 HGNC NCBI

Linked Data

dbSNP Id: rs572216766
gnomAD v3: 21-39777714-A-C
gnomAD v4: 21-39777714-A-C
MyVariant Identifiers: chr21:g.41149641A>C (hg19) chr21:g.39777714A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.39777714A>C , CM000683.2:g.39777714A>C GRCh38
NC_000021.8:g.41149641A>C , CM000683.1:g.41149641A>C GRCh37
NC_000021.7:g.40071511A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000380588.5:c.719-1376A>C MANE Select ENSP00000369962.4:n.719-1376A>C
ENST00000380588.4:c.719-1376A>C ENSP00000369962.4:n.719-1376A>C
ENST00000479378.1:n.825-1376A>C
NM_001080444.1:c.719-1376A>C NP_001073913.1:n.719-1376A>C
XM_011529472.1:c.989-1376A>C XP_011527774.1:n.989-1376A>C
XM_011529473.1:c.989-1376A>C XP_011527775.1:n.989-1376A>C
XM_011529472.2:c.989-1376A>C XP_011527774.1:n.989-1376A>C
NM_001080444.2:c.719-1376A>C MANE Select NP_001073913.1:n.719-1376A>C
Search 100 bp 5'
Search 100 bp 3'