Canonical Allele Identifier: CA371914885
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110183G>T , CM000670.2:g.118110183G>T GRCh38
NC_000008.10:g.119122422G>T , CM000670.1:g.119122422G>T GRCh37
NC_000008.9:g.119191603G>T NCBI36
NG_007455.2:g.6637C>A , LRG_493:g.6637C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.864C>A MANE Select ENSP00000367446.3:p.Asn288Lys
ENST00000436216.2:c.232C>A
ENST00000378204.6:c.864C>A ENSP00000367446.2:p.Asn288Lys
ENST00000436216.1:c.232C>A
ENST00000437196.1:c.73+791C>A ENSP00000407299.1:n.73+791C>A
NM_000127.2:c.864C>A , LRG_493t1:c.864C>A NP_000118.2:p.Asn288Lys
NM_000127.3:c.864C>A MANE Select NP_000118.2:p.Asn288Lys