Canonical Allele Identifier: CA4854255

Gene: EXT1

Linked Data

• dbSNP Id: rs374804403
• ExAC: 8:118847829 G / T
• gnomAD v2: 8-118847829-G-T
• gnomAD v4: 8-117835590-G-T
• MyVariant Identifiers: chr8:g.118847829G>T (hg19) ; chr8:g.117835590G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835590G>T , CM000670.2:g.117835590G>T	GRCh38
NC_000008.10:g.118847829G>T , CM000670.1:g.118847829G>T	GRCh37
NC_000008.9:g.118917010G>T	NCBI36
NG_007455.2:g.281230C>A , LRG_493:g.281230C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.524-39C>A
ENST00000378204.7:c.1057-39C>A MANE Select	ENSP00000367446.3:n.1057-39C>A
ENST00000436216.2:c.425-39C>A
ENST00000378204.6:c.1057-39C>A	ENSP00000367446.2:n.1057-39C>A
ENST00000436216.1:c.425-39C>A
ENST00000437196.1:c.74-39C>A	ENSP00000407299.1:n.74-39C>A
NM_000127.2:c.1057-39C>A , LRG_493t1:c.1057-39C>A	NP_000118.2:n.1057-39C>A
NM_000127.3:c.1057-39C>A MANE Select	NP_000118.2:n.1057-39C>A