Canonical Allele Identifier: CA184682718
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1023438280
gnomAD v2: 8-119123895-C-T
gnomAD v3: 8-118111656-C-T
gnomAD v4: 8-118111656-C-T
MyVariant Identifiers: chr8:g.119123895C>T (hg19) chr8:g.118111656C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111656C>T , CM000670.2:g.118111656C>T GRCh38
NC_000008.10:g.119123895C>T , CM000670.1:g.119123895C>T GRCh37
NC_000008.9:g.119193076C>T NCBI36
NG_007455.2:g.5164G>A , LRG_493:g.5164G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-610G>A MANE Select ENSP00000367446.3:n.-610G>A
ENST00000378204.6:c.-610G>A ENSP00000367446.2:n.-610G>A
NM_000127.2:c.-610G>A , LRG_493t1:c.-610G>A NP_000118.2:n.-610G>A
NM_000127.3:c.-610G>A MANE Select NP_000118.2:n.-610G>A
Search 100 bp 5'
Search 100 bp 3'