Canonical Allele Identifier: CA10630125
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361677
ClinVar RCV Id: RCV000260652
dbSNP Id: rs886062642
gnomAD v2: 8-119123940-G-T
gnomAD v3: 8-118111701-G-T
gnomAD v4: 8-118111701-G-T
MyVariant Identifiers: chr8:g.119123940G>T (hg19) chr8:g.118111701G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111701G>T , CM000670.2:g.118111701G>T GRCh38
NC_000008.10:g.119123940G>T , CM000670.1:g.119123940G>T GRCh37
NC_000008.9:g.119193121G>T NCBI36
NG_007455.2:g.5119C>A , LRG_493:g.5119C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-655C>A MANE Select ENSP00000367446.3:n.-655C>A
ENST00000378204.6:c.-655C>A ENSP00000367446.2:n.-655C>A
NM_000127.2:c.-655C>A , LRG_493t1:c.-655C>A NP_000118.2:n.-655C>A
NM_000127.3:c.-655C>A MANE Select NP_000118.2:n.-655C>A
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