Canonical Allele Identifier: CA371914701
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1817867616
gnomAD v3: 8-118110104-C-T
gnomAD v4: 8-118110104-C-T
MyVariant Identifiers: chr8:g.119122343C>T (hg19) chr8:g.118110104C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110104C>T , CM000670.2:g.118110104C>T GRCh38
NC_000008.10:g.119122343C>T , CM000670.1:g.119122343C>T GRCh37
NC_000008.9:g.119191524C>T NCBI36
NG_007455.2:g.6716G>A , LRG_493:g.6716G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.943G>A MANE Select ENSP00000367446.3:p.Asp315Asn
ENST00000436216.2:c.311G>A
ENST00000378204.6:c.943G>A ENSP00000367446.2:p.Asp315Asn
ENST00000436216.1:c.311G>A
ENST00000437196.1:c.73+870G>A ENSP00000407299.1:n.73+870G>A
NM_000127.2:c.943G>A , LRG_493t1:c.943G>A NP_000118.2:p.Asp315Asn
NM_000127.3:c.943G>A MANE Select NP_000118.2:p.Asp315Asn
Search 100 bp 5'
Search 100 bp 3'