Canonical Allele Identifier: CA1118366775
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1817901450
gnomAD v3: 8-118111395-T-C
gnomAD v4: 8-118111395-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111395T>C , CM000670.2:g.118111395T>C GRCh38
NC_000008.10:g.119123634T>C , CM000670.1:g.119123634T>C GRCh37
NC_000008.9:g.119192815T>C NCBI36
NG_007455.2:g.5425A>G , LRG_493:g.5425A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-349A>G MANE Select ENSP00000367446.3:n.-349A>G
ENST00000378204.6:c.-349A>G ENSP00000367446.2:n.-349A>G
NM_000127.2:c.-349A>G , LRG_493t1:c.-349A>G NP_000118.2:n.-349A>G
NM_000127.3:c.-349A>G MANE Select NP_000118.2:n.-349A>G
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