Canonical Allele Identifier: CA4854310
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs753126504
ExAC: 8:119122453 T / G
gnomAD v2: 8-119122453-T-G
gnomAD v4: 8-118110214-T-G
MyVariant Identifiers: chr8:g.119122453T>G (hg19) chr8:g.118110214T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110214T>G , CM000670.2:g.118110214T>G GRCh38
NC_000008.10:g.119122453T>G , CM000670.1:g.119122453T>G GRCh37
NC_000008.9:g.119191634T>G NCBI36
NG_007455.2:g.6606A>C , LRG_493:g.6606A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.833A>C MANE Select ENSP00000367446.3:p.Asp278Ala
ENST00000436216.2:c.201A>C
ENST00000378204.6:c.833A>C ENSP00000367446.2:p.Asp278Ala
ENST00000436216.1:c.201A>C
ENST00000437196.1:c.73+760A>C ENSP00000407299.1:n.73+760A>C
NM_000127.2:c.833A>C , LRG_493t1:c.833A>C NP_000118.2:p.Asp278Ala
NM_000127.3:c.833A>C MANE Select NP_000118.2:p.Asp278Ala
Search 100 bp 5'
Search 100 bp 3'