Canonical Allele Identifier: CA2688347007

Gene: EXT1

Linked Data

• gnomAD v4: 8-118110070-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118110070A>G , CM000670.2:g.118110070A>G	GRCh38
NC_000008.10:g.119122309A>G , CM000670.1:g.119122309A>G	GRCh37
NC_000008.9:g.119191490A>G	NCBI36
NG_007455.2:g.6750T>C , LRG_493:g.6750T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.962+15T>C MANE Select	ENSP00000367446.3:n.962+15T>C
ENST00000436216.2:c.330+15T>C
ENST00000378204.6:c.962+15T>C	ENSP00000367446.2:n.962+15T>C
ENST00000436216.1:c.330+15T>C
ENST00000437196.1:c.73+904T>C	ENSP00000407299.1:n.73+904T>C
NM_000127.2:c.962+15T>C , LRG_493t1:c.962+15T>C	NP_000118.2:n.962+15T>C
NM_000127.3:c.962+15T>C MANE Select	NP_000118.2:n.962+15T>C