Canonical Allele Identifier: CA462468828

Gene: EXT1

Linked Data

• gnomAD v4: 8-117835495-C-T
• MyVariant Identifiers: chr8:g.118847734C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835495C>T , CM000670.2:g.117835495C>T	GRCh38
NC_000008.10:g.118847734C>T , CM000670.1:g.118847734C>T	GRCh37
NC_000008.9:g.118916915C>T	NCBI36
NG_007455.2:g.281325G>A , LRG_493:g.281325G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.580G>A
ENST00000378204.7:c.1113G>A MANE Select	ENSP00000367446.3:p.Val371=
ENST00000436216.2:c.481G>A
ENST00000378204.6:c.1113G>A	ENSP00000367446.2:p.Val371=
ENST00000436216.1:c.481G>A
ENST00000437196.1:c.*4G>A	ENSP00000407299.1:n.*4G>A
NM_000127.2:c.1113G>A , LRG_493t1:c.1113G>A	NP_000118.2:p.Val371=
NM_000127.3:c.1113G>A MANE Select	NP_000118.2:p.Val371=