Canonical Allele Identifier: CA184682692
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1014987147
gnomAD v3: 8-118111447-G-C
gnomAD v4: 8-118111447-G-C
MyVariant Identifiers: chr8:g.118111447G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111447G>C , CM000670.2:g.118111447G>C GRCh38
NC_000008.10:g.119123686G>C , CM000670.1:g.119123686G>C GRCh37
NC_000008.9:g.119192867G>C NCBI36
NG_007455.2:g.5373C>G , LRG_493:g.5373C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-401C>G MANE Select ENSP00000367446.3:n.-401C>G
ENST00000378204.6:c.-401C>G ENSP00000367446.2:n.-401C>G
NM_000127.2:c.-401C>G , LRG_493t1:c.-401C>G NP_000118.2:n.-401C>G
NM_000127.3:c.-401C>G MANE Select NP_000118.2:n.-401C>G
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