Canonical Allele Identifier: CA184682727
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs989045352
gnomAD v3: 8-118111690-C-A
gnomAD v4: 8-118111690-C-A
MyVariant Identifiers: chr8:g.119123929C>A (hg19) chr8:g.118111690C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111690C>A , CM000670.2:g.118111690C>A GRCh38
NC_000008.10:g.119123929C>A , CM000670.1:g.119123929C>A GRCh37
NC_000008.9:g.119193110C>A NCBI36
NG_007455.2:g.5130G>T , LRG_493:g.5130G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.-644G>T MANE Select ENSP00000367446.3:n.-644G>T
ENST00000378204.6:c.-644G>T ENSP00000367446.2:n.-644G>T
NM_000127.2:c.-644G>T , LRG_493t1:c.-644G>T NP_000118.2:n.-644G>T
NM_000127.3:c.-644G>T MANE Select NP_000118.2:n.-644G>T
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