Canonical Allele Identifier: CA4854221
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs543882820
ExAC: 8:118847634 G / T
gnomAD v2: 8-118847634-G-T
gnomAD v3: 8-117835395-G-T
gnomAD v4: 8-117835395-G-T
MyVariant Identifiers: chr8:g.118847634G>T (hg19) chr8:g.117835395G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835395G>T , CM000670.2:g.117835395G>T GRCh38
NC_000008.10:g.118847634G>T , CM000670.1:g.118847634G>T GRCh37
NC_000008.9:g.118916815G>T NCBI36
NG_007455.2:g.281425C>A , LRG_493:g.281425C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.631+49C>A
ENST00000378204.7:c.1164+49C>A MANE Select ENSP00000367446.3:n.1164+49C>A
ENST00000436216.2:c.532+49C>A
ENST00000378204.6:c.1164+49C>A ENSP00000367446.2:n.1164+49C>A
ENST00000436216.1:c.532+49C>A
ENST00000437196.1:c.*55+49C>A ENSP00000407299.1:n.*55+49C>A
NM_000127.2:c.1164+49C>A , LRG_493t1:c.1164+49C>A NP_000118.2:n.1164+49C>A
NM_000127.3:c.1164+49C>A MANE Select NP_000118.2:n.1164+49C>A
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