Canonical Allele Identifier: CA184682403
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs749764356
gnomAD v2: 8-119122389-C-T
gnomAD v4: 8-118110150-C-T
MyVariant Identifiers: chr8:g.119122389C>T (hg19) chr8:g.118110150C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110150C>T , CM000670.2:g.118110150C>T GRCh38
NC_000008.10:g.119122389C>T , CM000670.1:g.119122389C>T GRCh37
NC_000008.9:g.119191570C>T NCBI36
NG_007455.2:g.6670G>A , LRG_493:g.6670G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.897G>A MANE Select ENSP00000367446.3:p.Lys299=
ENST00000436216.2:c.265G>A
ENST00000378204.6:c.897G>A ENSP00000367446.2:p.Lys299=
ENST00000436216.1:c.265G>A
ENST00000437196.1:c.73+824G>A ENSP00000407299.1:n.73+824G>A
NM_000127.2:c.897G>A , LRG_493t1:c.897G>A NP_000118.2:p.Lys299=
NM_000127.3:c.897G>A MANE Select NP_000118.2:p.Lys299=
Search 100 bp 5'
Search 100 bp 3'