Canonical Allele Identifier: CA371885528
Gene: EXT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.118832022G>T (hg19) chr8:g.117819783G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117819783G>T , CM000670.2:g.117819783G>T GRCh38
NC_000008.10:g.118832022G>T , CM000670.1:g.118832022G>T GRCh37
NC_000008.9:g.118901203G>T NCBI36
NG_007455.2:g.297037C>A , LRG_493:g.297037C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.896C>A
ENST00000378204.7:c.1429C>A MANE Select ENSP00000367446.3:p.Pro477Thr
ENST00000378204.6:c.1429C>A ENSP00000367446.2:p.Pro477Thr
ENST00000437196.1:c.*320C>A ENSP00000407299.1:n.*320C>A
NM_000127.2:c.1429C>A , LRG_493t1:c.1429C>A NP_000118.2:p.Pro477Thr
NM_000127.3:c.1429C>A MANE Select NP_000118.2:p.Pro477Thr
Search 100 bp 5'
Search 100 bp 3'