Canonical Allele Identifier: CA4854237
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs763568003
ExAC: 8:118847760 C / G
gnomAD v2: 8-118847760-C-G
gnomAD v4: 8-117835521-C-G
MyVariant Identifiers: chr8:g.118847760C>G (hg19) chr8:g.117835521C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835521C>G , CM000670.2:g.117835521C>G GRCh38
NC_000008.10:g.118847760C>G , CM000670.1:g.118847760C>G GRCh37
NC_000008.9:g.118916941C>G NCBI36
NG_007455.2:g.281299G>C , LRG_493:g.281299G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.554G>C
ENST00000378204.7:c.1087G>C MANE Select ENSP00000367446.3:p.Gly363Arg
ENST00000436216.2:c.455G>C
ENST00000378204.6:c.1087G>C ENSP00000367446.2:p.Gly363Arg
ENST00000436216.1:c.455G>C
ENST00000437196.1:c.104G>C ENSP00000407299.1:p.Trp35Ser
NM_000127.2:c.1087G>C , LRG_493t1:c.1087G>C NP_000118.2:p.Gly363Arg
NM_000127.3:c.1087G>C MANE Select NP_000118.2:p.Gly363Arg
Search 100 bp 5'
Search 100 bp 3'