Canonical Allele Identifier: CA371892666

Gene: EXT1

Linked Data

• gnomAD v4: 8-117835530-G-T
• MyVariant Identifiers: chr8:g.118847769G>T (hg19) ; chr8:g.117835530G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835530G>T , CM000670.2:g.117835530G>T	GRCh38
NC_000008.10:g.118847769G>T , CM000670.1:g.118847769G>T	GRCh37
NC_000008.9:g.118916950G>T	NCBI36
NG_007455.2:g.281290C>A , LRG_493:g.281290C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.545C>A
ENST00000378204.7:c.1078C>A MANE Select	ENSP00000367446.3:p.Leu360Ile
ENST00000436216.2:c.446C>A
ENST00000378204.6:c.1078C>A	ENSP00000367446.2:p.Leu360Ile
ENST00000436216.1:c.446C>A
ENST00000437196.1:c.95C>A	ENSP00000407299.1:p.Ala32Asp
NM_000127.2:c.1078C>A , LRG_493t1:c.1078C>A	NP_000118.2:p.Leu360Ile
NM_000127.3:c.1078C>A MANE Select	NP_000118.2:p.Leu360Ile