Canonical Allele Identifier: CA371878197
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs2129701377
MyVariant Identifiers: chr8:g.118819523A>T (hg19) chr8:g.117807284A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807284A>T , CM000670.2:g.117807284A>T GRCh38
NC_000008.10:g.118819523A>T , CM000670.1:g.118819523A>T GRCh37
NC_000008.9:g.118888704A>T NCBI36
NG_007455.2:g.309536T>A , LRG_493:g.309536T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.1283T>A
ENST00000378204.7:c.1816T>A MANE Select ENSP00000367446.3:p.Trp606Arg
ENST00000378204.6:c.1816T>A ENSP00000367446.2:p.Trp606Arg
ENST00000437196.1:c.*707T>A ENSP00000407299.1:n.*707T>A
NM_000127.2:c.1816T>A , LRG_493t1:c.1816T>A NP_000118.2:p.Trp606Arg
NM_000127.3:c.1816T>A MANE Select NP_000118.2:p.Trp606Arg
Search 100 bp 5'
Search 100 bp 3'