Canonical Allele Identifier: CA10604299

Gene: EXT1

Linked Data

• ClinVar Variation Id: 282801
• ClinVar RCV Id: RCV000386242 ; RCV001086497
• dbSNP Id: rs886042484
• gnomAD v2: 8-119122677-G-A
• gnomAD v3: 8-118110438-G-A
• gnomAD v4: 8-118110438-G-A
• MyVariant Identifiers: chr8:g.119122677G>A (hg19) ; chr8:g.118110438G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110438G>A , CM000670.2:g.118110438G>A	GRCh38
NC_000008.10:g.119122677G>A , CM000670.1:g.119122677G>A	GRCh37
NC_000008.9:g.119191858G>A	NCBI36
NG_007455.2:g.6382C>T , LRG_493:g.6382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.609C>T MANE Select	ENSP00000367446.3:p.Tyr203=
ENST00000378204.6:c.609C>T	ENSP00000367446.2:p.Tyr203=
ENST00000437196.1:c.73+536C>T	ENSP00000407299.1:n.73+536C>T
NM_000127.2:c.609C>T , LRG_493t1:c.609C>T	NP_000118.2:p.Tyr203=
NM_000127.3:c.609C>T MANE Select	NP_000118.2:p.Tyr203=