Canonical Allele Identifier: CA637838816
Gene: IGSF5 HGNC NCBI

Linked Data

dbSNP Id: rs1206501629
gnomAD v2: 21-41149402-T-C
gnomAD v3: 21-39777475-T-C
gnomAD v4: 21-39777475-T-C
MyVariant Identifiers: chr21:g.41149402T>C (hg19) chr21:g.39777475T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.39777475T>C , CM000683.2:g.39777475T>C GRCh38
NC_000021.8:g.41149402T>C , CM000683.1:g.41149402T>C GRCh37
NC_000021.7:g.40071272T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000380588.5:c.719-1615T>C MANE Select ENSP00000369962.4:n.719-1615T>C
ENST00000380588.4:c.719-1615T>C ENSP00000369962.4:n.719-1615T>C
ENST00000479378.1:n.825-1615T>C
NM_001080444.1:c.719-1615T>C NP_001073913.1:n.719-1615T>C
XM_011529472.1:c.989-1615T>C XP_011527774.1:n.989-1615T>C
XM_011529473.1:c.989-1615T>C XP_011527775.1:n.989-1615T>C
XM_011529472.2:c.989-1615T>C XP_011527774.1:n.989-1615T>C
NM_001080444.2:c.719-1615T>C MANE Select NP_001073913.1:n.719-1615T>C
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