Canonical Allele Identifier: CA1813957415
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837193T= , CM000670.2:g.117837193T= GRCh38
NC_000008.10:g.118849432T= , CM000670.1:g.118849432T= GRCh37
NC_000008.9:g.118918613T= NCBI36
NG_007455.2:g.279627A= , LRG_493:g.279627A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.438A=
ENST00000378204.7:c.971A= MANE Select ENSP00000367446.3:p.Tyr324=
ENST00000436216.2:c.339A=
ENST00000378204.6:c.971A= ENSP00000367446.2:p.Tyr324=
ENST00000436216.1:c.339A=
ENST00000437196.1:c.74-1642A= ENSP00000407299.1:n.74-1642A=
NM_000127.2:c.971A= , LRG_493t1:c.971A= NP_000118.2:p.Tyr324=
NM_000127.3:c.971A= MANE Select NP_000118.2:p.Tyr324=