Canonical Allele Identifier: CA371892016
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs747020325
gnomAD v2: 8-118847709-T-G
gnomAD v3: 8-117835470-T-G
gnomAD v4: 8-117835470-T-G
MyVariant Identifiers: chr8:g.118847709T>G (hg19) chr8:g.117835470T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835470T>G , CM000670.2:g.117835470T>G GRCh38
NC_000008.10:g.118847709T>G , CM000670.1:g.118847709T>G GRCh37
NC_000008.9:g.118916890T>G NCBI36
NG_007455.2:g.281350A>C , LRG_493:g.281350A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.605A>C
ENST00000378204.7:c.1138A>C MANE Select ENSP00000367446.3:p.Ile380Leu
ENST00000436216.2:c.506A>C
ENST00000378204.6:c.1138A>C ENSP00000367446.2:p.Ile380Leu
ENST00000436216.1:c.506A>C
ENST00000437196.1:c.*29A>C ENSP00000407299.1:n.*29A>C
NM_000127.2:c.1138A>C , LRG_493t1:c.1138A>C NP_000118.2:p.Ile380Leu
NM_000127.3:c.1138A>C MANE Select NP_000118.2:p.Ile380Leu
Search 100 bp 5'
Search 100 bp 3'