Canonical Allele Identifier: CA371893241
Gene: EXT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837123G>C , CM000670.2:g.117837123G>C GRCh38
NC_000008.10:g.118849362G>C , CM000670.1:g.118849362G>C GRCh37
NC_000008.9:g.118918543G>C NCBI36
NG_007455.2:g.279697C>G , LRG_493:g.279697C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.508C>G
ENST00000378204.7:c.1041C>G MANE Select ENSP00000367446.3:p.Phe347Leu
ENST00000436216.2:c.409C>G
ENST00000378204.6:c.1041C>G ENSP00000367446.2:p.Phe347Leu
ENST00000436216.1:c.409C>G
ENST00000437196.1:c.74-1572C>G ENSP00000407299.1:n.74-1572C>G
NM_000127.2:c.1041C>G , LRG_493t1:c.1041C>G NP_000118.2:p.Phe347Leu
NM_000127.3:c.1041C>G MANE Select NP_000118.2:p.Phe347Leu