Canonical Allele Identifier: CA371878559
Gene: EXT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.118819588C>G (hg19) chr8:g.117807349C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807349C>G , CM000670.2:g.117807349C>G GRCh38
NC_000008.10:g.118819588C>G , CM000670.1:g.118819588C>G GRCh37
NC_000008.9:g.118888769C>G NCBI36
NG_007455.2:g.309471G>C , LRG_493:g.309471G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.1218G>C
ENST00000378204.7:c.1751G>C MANE Select ENSP00000367446.3:p.Ser584Thr
ENST00000378204.6:c.1751G>C ENSP00000367446.2:p.Ser584Thr
ENST00000437196.1:c.*642G>C ENSP00000407299.1:n.*642G>C
NM_000127.2:c.1751G>C , LRG_493t1:c.1751G>C NP_000118.2:p.Ser584Thr
NM_000127.3:c.1751G>C MANE Select NP_000118.2:p.Ser584Thr
Search 100 bp 5'
Search 100 bp 3'