Canonical Allele Identifier: CA371914781
Gene: EXT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.119122376A>G (hg19) chr8:g.118110137A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110137A>G , CM000670.2:g.118110137A>G GRCh38
NC_000008.10:g.119122376A>G , CM000670.1:g.119122376A>G GRCh37
NC_000008.9:g.119191557A>G NCBI36
NG_007455.2:g.6683T>C , LRG_493:g.6683T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.910T>C MANE Select ENSP00000367446.3:p.Trp304Arg
ENST00000436216.2:c.278T>C
ENST00000378204.6:c.910T>C ENSP00000367446.2:p.Trp304Arg
ENST00000436216.1:c.278T>C
ENST00000437196.1:c.73+837T>C ENSP00000407299.1:n.73+837T>C
NM_000127.2:c.910T>C , LRG_493t1:c.910T>C NP_000118.2:p.Trp304Arg
NM_000127.3:c.910T>C MANE Select NP_000118.2:p.Trp304Arg
Search 100 bp 5'
Search 100 bp 3'