Canonical Allele Identifier: CA184298226

Gene: EXT1

Linked Data

• dbSNP Id: rs1020043562
• gnomAD v3: 8-117837293-C-T
• gnomAD v4: 8-117837293-C-T
• MyVariant Identifiers: chr8:g.118849532C>T (hg19) ; chr8:g.117837293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837293C>T , CM000670.2:g.117837293C>T	GRCh38
NC_000008.10:g.118849532C>T , CM000670.1:g.118849532C>T	GRCh37
NC_000008.9:g.118918713C>T	NCBI36
NG_007455.2:g.279527G>A , LRG_493:g.279527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.430-92G>A
ENST00000378204.7:c.963-92G>A MANE Select	ENSP00000367446.3:n.963-92G>A
ENST00000436216.2:c.331-92G>A
ENST00000378204.6:c.963-92G>A	ENSP00000367446.2:n.963-92G>A
ENST00000436216.1:c.331-92G>A
ENST00000437196.1:c.74-1742G>A	ENSP00000407299.1:n.74-1742G>A
NM_000127.2:c.963-92G>A , LRG_493t1:c.963-92G>A	NP_000118.2:n.963-92G>A
NM_000127.3:c.963-92G>A MANE Select	NP_000118.2:n.963-92G>A