Canonical Allele Identifier: CA371878177

Gene: EXT1

Linked Data

• dbSNP Id: rs1823253013
• gnomAD v4: 8-117807281-C-T
• MyVariant Identifiers: chr8:g.118819520C>T (hg19) ; chr8:g.117807281C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807281C>T , CM000670.2:g.117807281C>T	GRCh38
NC_000008.10:g.118819520C>T , CM000670.1:g.118819520C>T	GRCh37
NC_000008.9:g.118888701C>T	NCBI36
NG_007455.2:g.309539G>A , LRG_493:g.309539G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.1286G>A
ENST00000378204.7:c.1819G>A MANE Select	ENSP00000367446.3:p.Gly607Arg
ENST00000378204.6:c.1819G>A	ENSP00000367446.2:p.Gly607Arg
ENST00000437196.1:c.*710G>A	ENSP00000407299.1:n.*710G>A
NM_000127.2:c.1819G>A , LRG_493t1:c.1819G>A	NP_000118.2:p.Gly607Arg
NM_000127.3:c.1819G>A MANE Select	NP_000118.2:p.Gly607Arg