Canonical Allele Identifier: CA846256391
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1420846005
gnomAD v3: 8-118111840-T-C
gnomAD v4: 8-118111840-T-C
MyVariant Identifiers: chr8:g.119124079T>C (hg19) chr8:g.118111840T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111840T>C , CM000670.2:g.118111840T>C GRCh38
NC_000008.10:g.119124079T>C , CM000670.1:g.119124079T>C GRCh37
NC_000008.9:g.119193260T>C NCBI36
NG_007455.2:g.4980A>G , LRG_493:g.4980A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.6:c.-794A>G ENSP00000367446.2:n.-794A>G
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