Canonical Allele Identifier: CA1813949905
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117819823T= , CM000670.2:g.117819823T= GRCh38
NC_000008.10:g.118832062T= , CM000670.1:g.118832062T= GRCh37
NC_000008.9:g.118901243T= NCBI36
NG_007455.2:g.296997A= , LRG_493:g.296997A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.885-29A=
ENST00000378204.7:c.1418-29A= MANE Select ENSP00000367446.3:n.1418-29A=
ENST00000378204.6:c.1418-29A= ENSP00000367446.2:n.1418-29A=
ENST00000437196.1:c.*309-29A= ENSP00000407299.1:n.*309-29A=
NM_000127.2:c.1418-29A= , LRG_493t1:c.1418-29A= NP_000118.2:n.1418-29A=
NM_000127.3:c.1418-29A= MANE Select NP_000118.2:n.1418-29A=