Canonical Allele Identifier: CA846207468
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1314617658
MyVariant Identifiers: chr8:g.118832193A>T (hg19) chr8:g.117819954A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117819954A>T , CM000670.2:g.117819954A>T GRCh38
NC_000008.10:g.118832193A>T , CM000670.1:g.118832193A>T GRCh37
NC_000008.9:g.118901374A>T NCBI36
NG_007455.2:g.296866T>A , LRG_493:g.296866T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.885-160T>A
ENST00000378204.7:c.1418-160T>A MANE Select ENSP00000367446.3:n.1418-160T>A
ENST00000378204.6:c.1418-160T>A ENSP00000367446.2:n.1418-160T>A
ENST00000437196.1:c.*309-160T>A ENSP00000407299.1:n.*309-160T>A
NM_000127.2:c.1418-160T>A , LRG_493t1:c.1418-160T>A NP_000118.2:n.1418-160T>A
NM_000127.3:c.1418-160T>A MANE Select NP_000118.2:n.1418-160T>A
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