Canonical Allele Identifier: CA184682743
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs886062642
gnomAD v3: 8-118111701-G-C
gnomAD v4: 8-118111701-G-C
MyVariant Identifiers: chr8:g.119123940G>C (hg19) chr8:g.118111701G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111701G>C , CM000670.2:g.118111701G>C GRCh38
NC_000008.10:g.119123940G>C , CM000670.1:g.119123940G>C GRCh37
NC_000008.9:g.119193121G>C NCBI36
NG_007455.2:g.5119C>G , LRG_493:g.5119C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-655C>G MANE Select ENSP00000367446.3:n.-655C>G
ENST00000378204.6:c.-655C>G ENSP00000367446.2:n.-655C>G
NM_000127.2:c.-655C>G , LRG_493t1:c.-655C>G NP_000118.2:n.-655C>G
NM_000127.3:c.-655C>G MANE Select NP_000118.2:n.-655C>G
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