Canonical Allele Identifier: CA846256029
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1367840482
gnomAD v4: 8-118111463-A-G
MyVariant Identifiers: chr8:g.119123702A>G (hg19) chr8:g.118111463A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111463A>G , CM000670.2:g.118111463A>G GRCh38
NC_000008.10:g.119123702A>G , CM000670.1:g.119123702A>G GRCh37
NC_000008.9:g.119192883A>G NCBI36
NG_007455.2:g.5357T>C , LRG_493:g.5357T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-417T>C MANE Select ENSP00000367446.3:n.-417T>C
ENST00000378204.6:c.-417T>C ENSP00000367446.2:n.-417T>C
NM_000127.2:c.-417T>C , LRG_493t1:c.-417T>C NP_000118.2:n.-417T>C
NM_000127.3:c.-417T>C MANE Select NP_000118.2:n.-417T>C
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