Canonical Allele Identifier: CA846256050
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1184968264
MyVariant Identifiers: chr8:g.119123762A>G (hg19) chr8:g.118111523A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111523A>G , CM000670.2:g.118111523A>G GRCh38
NC_000008.10:g.119123762A>G , CM000670.1:g.119123762A>G GRCh37
NC_000008.9:g.119192943A>G NCBI36
NG_007455.2:g.5297T>C , LRG_493:g.5297T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-477T>C MANE Select ENSP00000367446.3:n.-477T>C
ENST00000378204.6:c.-477T>C ENSP00000367446.2:n.-477T>C
NM_000127.2:c.-477T>C , LRG_493t1:c.-477T>C NP_000118.2:n.-477T>C
NM_000127.3:c.-477T>C MANE Select NP_000118.2:n.-477T>C
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