Canonical Allele Identifier: CA371893232
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837118T>G , CM000670.2:g.117837118T>G GRCh38
NC_000008.10:g.118849357T>G , CM000670.1:g.118849357T>G GRCh37
NC_000008.9:g.118918538T>G NCBI36
NG_007455.2:g.279702A>C , LRG_493:g.279702A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.513A>C
ENST00000378204.7:c.1046A>C MANE Select ENSP00000367446.3:p.Glu349Ala
ENST00000436216.2:c.414A>C
ENST00000378204.6:c.1046A>C ENSP00000367446.2:p.Glu349Ala
ENST00000436216.1:c.414A>C
ENST00000437196.1:c.74-1567A>C ENSP00000407299.1:n.74-1567A>C
NM_000127.2:c.1046A>C , LRG_493t1:c.1046A>C NP_000118.2:p.Glu349Ala
NM_000127.3:c.1046A>C MANE Select NP_000118.2:p.Glu349Ala