Canonical Allele Identifier: CA846256057
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1222438637
gnomAD v3: 8-118111551-G-T
gnomAD v4: 8-118111551-G-T
MyVariant Identifiers: chr8:g.119123790G>T (hg19) chr8:g.118111551G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111551G>T , CM000670.2:g.118111551G>T GRCh38
NC_000008.10:g.119123790G>T , CM000670.1:g.119123790G>T GRCh37
NC_000008.9:g.119192971G>T NCBI36
NG_007455.2:g.5269C>A , LRG_493:g.5269C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-505C>A MANE Select ENSP00000367446.3:n.-505C>A
ENST00000378204.6:c.-505C>A ENSP00000367446.2:n.-505C>A
NM_000127.2:c.-505C>A , LRG_493t1:c.-505C>A NP_000118.2:n.-505C>A
NM_000127.3:c.-505C>A MANE Select NP_000118.2:n.-505C>A
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