Canonical Allele Identifier: CA2688346795

Gene: EXT1

Linked Data

• gnomAD v4: 8-117837012-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837012T>A , CM000670.2:g.117837012T>A	GRCh38
NC_000008.10:g.118849251T>A , CM000670.1:g.118849251T>A	GRCh37
NC_000008.9:g.118918432T>A	NCBI36
NG_007455.2:g.279808A>T , LRG_493:g.279808A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.523+96A>T
ENST00000378204.7:c.1056+96A>T MANE Select	ENSP00000367446.3:n.1056+96A>T
ENST00000436216.2:c.424+96A>T
ENST00000378204.6:c.1056+96A>T	ENSP00000367446.2:n.1056+96A>T
ENST00000436216.1:c.424+96A>T
ENST00000437196.1:c.74-1461A>T	ENSP00000407299.1:n.74-1461A>T
NM_000127.2:c.1056+96A>T , LRG_493t1:c.1056+96A>T	NP_000118.2:n.1056+96A>T
NM_000127.3:c.1056+96A>T MANE Select	NP_000118.2:n.1056+96A>T