Canonical Allele Identifier: CA1814090535
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1817904008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111540G>C , CM000670.2:g.118111540G>C GRCh38
NC_000008.10:g.119123779G>C , CM000670.1:g.119123779G>C GRCh37
NC_000008.9:g.119192960G>C NCBI36
NG_007455.2:g.5280C>G , LRG_493:g.5280C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-494C>G MANE Select ENSP00000367446.3:n.-494C>G
ENST00000378204.6:c.-494C>G ENSP00000367446.2:n.-494C>G
NM_000127.2:c.-494C>G , LRG_493t1:c.-494C>G NP_000118.2:n.-494C>G
NM_000127.3:c.-494C>G MANE Select NP_000118.2:n.-494C>G
Search 100 bp 5'
Search 100 bp 3'