Canonical Allele Identifier: CA2688346847
Gene: EXT1 HGNC NCBI

Linked Data

gnomAD v4: 8-117837214-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837214G>C , CM000670.2:g.117837214G>C GRCh38
NC_000008.10:g.118849453G>C , CM000670.1:g.118849453G>C GRCh37
NC_000008.9:g.118918634G>C NCBI36
NG_007455.2:g.279606C>G , LRG_493:g.279606C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.430-13C>G
ENST00000378204.7:c.963-13C>G MANE Select ENSP00000367446.3:n.963-13C>G
ENST00000436216.2:c.331-13C>G
ENST00000378204.6:c.963-13C>G ENSP00000367446.2:n.963-13C>G
ENST00000436216.1:c.331-13C>G
ENST00000437196.1:c.74-1663C>G ENSP00000407299.1:n.74-1663C>G
NM_000127.2:c.963-13C>G , LRG_493t1:c.963-13C>G NP_000118.2:n.963-13C>G
NM_000127.3:c.963-13C>G MANE Select NP_000118.2:n.963-13C>G
Search 100 bp 5'
Search 100 bp 3'