Canonical Allele Identifier: CA846256347
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1380225755
MyVariant Identifiers: chr8:g.119124062T>G (hg19) chr8:g.118111823T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111823T>G , CM000670.2:g.118111823T>G GRCh38
NC_000008.10:g.119124062T>G , CM000670.1:g.119124062T>G GRCh37
NC_000008.9:g.119193243T>G NCBI36
NG_007455.2:g.4997A>C , LRG_493:g.4997A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-777A>C MANE Select ENSP00000367446.3:n.-777A>C
ENST00000378204.6:c.-777A>C ENSP00000367446.2:n.-777A>C
NM_000127.3:c.-777A>C MANE Select NP_000118.2:n.-777A>C
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