Canonical Allele Identifier: CA1813956700
Gene: EXT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835509G= , CM000670.2:g.117835509G= GRCh38
NC_000008.10:g.118847748G= , CM000670.1:g.118847748G= GRCh37
NC_000008.9:g.118916929G= NCBI36
NG_007455.2:g.281311C= , LRG_493:g.281311C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.566C=
ENST00000378204.7:c.1099C= MANE Select ENSP00000367446.3:p.Pro367=
ENST00000436216.2:c.467C=
ENST00000378204.6:c.1099C= ENSP00000367446.2:p.Pro367=
ENST00000436216.1:c.467C=
ENST00000437196.1:c.116C= ENSP00000407299.1:p.Ala39=
NM_000127.2:c.1099C= , LRG_493t1:c.1099C= NP_000118.2:p.Pro367=
NM_000127.3:c.1099C= MANE Select NP_000118.2:p.Pro367=