Canonical Allele Identifier: CA1814090946
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1817911579
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111832G>C , CM000670.2:g.118111832G>C GRCh38
NC_000008.10:g.119124071G>C , CM000670.1:g.119124071G>C GRCh37
NC_000008.9:g.119193252G>C NCBI36
NG_007455.2:g.4988C>G , LRG_493:g.4988C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.6:c.-786C>G ENSP00000367446.2:n.-786C>G
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