Canonical Allele Identifier: CA584473498
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1380225755
gnomAD v2: 8-119124062-T-C
gnomAD v3: 8-118111823-T-C
gnomAD v4: 8-118111823-T-C
MyVariant Identifiers: chr8:g.119124062T>C (hg19) chr8:g.118111823T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111823T>C , CM000670.2:g.118111823T>C GRCh38
NC_000008.10:g.119124062T>C , CM000670.1:g.119124062T>C GRCh37
NC_000008.9:g.119193243T>C NCBI36
NG_007455.2:g.4997A>G , LRG_493:g.4997A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-777A>G MANE Select ENSP00000367446.3:n.-777A>G
ENST00000378204.6:c.-777A>G ENSP00000367446.2:n.-777A>G
NM_000127.3:c.-777A>G MANE Select NP_000118.2:n.-777A>G
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