Canonical Allele Identifier: CA11928312
Gene: ISL1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.51394261A>T
GRCh37 chr5:g.50690095A>T
gnomAD v2:
5:50690095 A / T
gnomAD v3:
5:51394261 A / T
gnomAD v4:
chr5-51394261-A-T
Joint Max Group AF 0.60843311 (AFR)
Genomes Max Group AF 0.60843311 (AFR)
Exomes Max Group AF 0.19571676 (NFE)
dbSNP:
1017
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000230658.12:c.*651A>T MANE Select ENSP00000230658.7:n.*651A>T
ENST00000230658.11:c.*651A>T ENSP00000230658.7:n.*651A>T
NM_002202.2:c.*651A>T NP_002193.2:n.*651A>T
XM_011543380.1:c.*651A>T XP_011541682.1:n.*651A>T
XM_011543380.2:c.*651A>T XP_011541682.1:n.*651A>T
NM_002202.3:c.*651A>T MANE Select NP_002193.2:n.*651A>T
Search 100 bp 5'
Search 100 bp 3'