Canonical Allele Identifier: CA2718209359
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs2130040726
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110038C>T , CM000670.2:g.118110038C>T GRCh38
NC_000008.10:g.119122277C>T , CM000670.1:g.119122277C>T GRCh37
NC_000008.9:g.119191458C>T NCBI36
NG_007455.2:g.6782G>A , LRG_493:g.6782G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.962+47G>A MANE Select ENSP00000367446.3:n.962+47G>A
ENST00000436216.2:c.330+47G>A
ENST00000378204.6:c.962+47G>A ENSP00000367446.2:n.962+47G>A
ENST00000436216.1:c.330+47G>A
ENST00000437196.1:c.73+936G>A ENSP00000407299.1:n.73+936G>A
NM_000127.2:c.962+47G>A , LRG_493t1:c.962+47G>A NP_000118.2:n.962+47G>A
NM_000127.3:c.962+47G>A MANE Select NP_000118.2:n.962+47G>A
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