Canonical Allele Identifier: CA462468965

Gene: EXT1

Linked Data

• dbSNP Id: rs1488679114
• gnomAD v4: 8-117837117-C-T
• MyVariant Identifiers: chr8:g.118849356C>T (hg19) ; chr8:g.117837117C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837117C>T , CM000670.2:g.117837117C>T	GRCh38
NC_000008.10:g.118849356C>T , CM000670.1:g.118849356C>T	GRCh37
NC_000008.9:g.118918537C>T	NCBI36
NG_007455.2:g.279703G>A , LRG_493:g.279703G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.514G>A
ENST00000378204.7:c.1047G>A MANE Select	ENSP00000367446.3:p.Glu349=
ENST00000436216.2:c.415G>A
ENST00000378204.6:c.1047G>A	ENSP00000367446.2:p.Glu349=
ENST00000436216.1:c.415G>A
ENST00000437196.1:c.74-1566G>A	ENSP00000407299.1:n.74-1566G>A
NM_000127.2:c.1047G>A , LRG_493t1:c.1047G>A	NP_000118.2:p.Glu349=
NM_000127.3:c.1047G>A MANE Select	NP_000118.2:p.Glu349=