Canonical Allele Identifier: CA10624659
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361675
ClinVar RCV Id: RCV000264375 RCV000305484
dbSNP Id: rs534171475
gnomAD v2: 8-119123927-C-T
gnomAD v3: 8-118111688-C-T
gnomAD v4: 8-118111688-C-T
MyVariant Identifiers: chr8:g.119123927C>T (hg19) chr8:g.118111688C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111688C>T , CM000670.2:g.118111688C>T GRCh38
NC_000008.10:g.119123927C>T , CM000670.1:g.119123927C>T GRCh37
NC_000008.9:g.119193108C>T NCBI36
NG_007455.2:g.5132G>A , LRG_493:g.5132G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-642G>A MANE Select ENSP00000367446.3:n.-642G>A
ENST00000378204.6:c.-642G>A ENSP00000367446.2:n.-642G>A
NM_000127.2:c.-642G>A , LRG_493t1:c.-642G>A NP_000118.2:n.-642G>A
NM_000127.3:c.-642G>A MANE Select NP_000118.2:n.-642G>A
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