Canonical Allele Identifier: CA584473406
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1241181029
gnomAD v2: 8-119123772-C-A
gnomAD v3: 8-118111533-C-A
gnomAD v4: 8-118111533-C-A
MyVariant Identifiers: chr8:g.119123772C>A (hg19) chr8:g.118111533C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111533C>A , CM000670.2:g.118111533C>A GRCh38
NC_000008.10:g.119123772C>A , CM000670.1:g.119123772C>A GRCh37
NC_000008.9:g.119192953C>A NCBI36
NG_007455.2:g.5287G>T , LRG_493:g.5287G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-487G>T MANE Select ENSP00000367446.3:n.-487G>T
ENST00000378204.6:c.-487G>T ENSP00000367446.2:n.-487G>T
NM_000127.2:c.-487G>T , LRG_493t1:c.-487G>T NP_000118.2:n.-487G>T
NM_000127.3:c.-487G>T MANE Select NP_000118.2:n.-487G>T
Search 100 bp 5'
Search 100 bp 3'