Canonical Allele Identifier: CA118608471
Gene: ISL1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.51394261A>G
GRCh37 chr5:g.50690095A>G
gnomAD v2:
5:50690095 A / G
gnomAD v3:
5:51394261 A / G
gnomAD v4:
chr5-51394261-A-G
Joint Max Group AF 0.00153261 (NFE)
Genomes Max Group AF 0.00153498 (NFE)
dbSNP:
1017
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.51394261A>G , CM000667.2:g.51394261A>G GRCh38
NC_000005.9:g.50690095A>G , CM000667.1:g.50690095A>G GRCh37
NC_000005.8:g.50725852A>G NCBI36
NG_023040.1:g.16138A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230658.12:c.*651A>G MANE Select ENSP00000230658.7:n.*651A>G
ENST00000230658.11:c.*651A>G ENSP00000230658.7:n.*651A>G
NM_002202.2:c.*651A>G NP_002193.2:n.*651A>G
XM_011543380.1:c.*651A>G XP_011541682.1:n.*651A>G
XM_011543380.2:c.*651A>G XP_011541682.1:n.*651A>G
NM_002202.3:c.*651A>G MANE Select NP_002193.2:n.*651A>G
Search 100 bp 5'
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