Canonical Allele Identifier: CA371914700
Gene: EXT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.119122343C>G (hg19) chr8:g.118110104C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110104C>G , CM000670.2:g.118110104C>G GRCh38
NC_000008.10:g.119122343C>G , CM000670.1:g.119122343C>G GRCh37
NC_000008.9:g.119191524C>G NCBI36
NG_007455.2:g.6716G>C , LRG_493:g.6716G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.943G>C MANE Select ENSP00000367446.3:p.Asp315His
ENST00000436216.2:c.311G>C
ENST00000378204.6:c.943G>C ENSP00000367446.2:p.Asp315His
ENST00000436216.1:c.311G>C
ENST00000437196.1:c.73+870G>C ENSP00000407299.1:n.73+870G>C
NM_000127.2:c.943G>C , LRG_493t1:c.943G>C NP_000118.2:p.Asp315His
NM_000127.3:c.943G>C MANE Select NP_000118.2:p.Asp315His
Search 100 bp 5'
Search 100 bp 3'