Canonical Allele Identifier: CA15556836

Gene: EXT1

Linked Data

• dbSNP Id: rs7459527
• gnomAD v2: 8-118909260-A-C
• gnomAD v3: 8-117897021-A-C
• gnomAD v4: 8-117897021-A-C
• MyVariant Identifiers: chr8:g.118909260A>C (hg19) ; chr8:g.117897021A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117897021A>C , CM000670.2:g.117897021A>C	GRCh38
NC_000008.10:g.118909260A>C , CM000670.1:g.118909260A>C	GRCh37
NC_000008.9:g.118978441A>C	NCBI36
NG_007455.2:g.219799T>G , LRG_493:g.219799T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.430-59820T>G
ENST00000378204.7:c.963-59820T>G MANE Select	ENSP00000367446.3:n.963-59820T>G
ENST00000436216.2:c.331-59820T>G
ENST00000378204.6:c.963-59820T>G	ENSP00000367446.2:n.963-59820T>G
ENST00000436216.1:c.331-59820T>G
ENST00000437196.1:c.74-61470T>G	ENSP00000407299.1:n.74-61470T>G
NM_000127.2:c.963-59820T>G , LRG_493t1:c.963-59820T>G	NP_000118.2:n.963-59820T>G
NM_000127.3:c.963-59820T>G MANE Select	NP_000118.2:n.963-59820T>G