Canonical Allele Identifier: CA846218087

Gene: EXT1

Linked Data

• dbSNP Id: rs1342268873
• gnomAD v4: 8-117837275-C-A
• MyVariant Identifiers: chr8:g.118849514C>A (hg19) ; chr8:g.117837275C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837275C>A , CM000670.2:g.117837275C>A	GRCh38
NC_000008.10:g.118849514C>A , CM000670.1:g.118849514C>A	GRCh37
NC_000008.9:g.118918695C>A	NCBI36
NG_007455.2:g.279545G>T , LRG_493:g.279545G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.430-74G>T
ENST00000378204.7:c.963-74G>T MANE Select	ENSP00000367446.3:n.963-74G>T
ENST00000436216.2:c.331-74G>T
ENST00000378204.6:c.963-74G>T	ENSP00000367446.2:n.963-74G>T
ENST00000436216.1:c.331-74G>T
ENST00000437196.1:c.74-1724G>T	ENSP00000407299.1:n.74-1724G>T
NM_000127.2:c.963-74G>T , LRG_493t1:c.963-74G>T	NP_000118.2:n.963-74G>T
NM_000127.3:c.963-74G>T MANE Select	NP_000118.2:n.963-74G>T