Canonical Allele Identifier: CA371885544

Gene: EXT1

Linked Data

• dbSNP Id: rs751005275
• gnomAD v4: 8-117819786-G-A
• MyVariant Identifiers: chr8:g.118832025G>A (hg19) ; chr8:g.117819786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117819786G>A , CM000670.2:g.117819786G>A	GRCh38
NC_000008.10:g.118832025G>A , CM000670.1:g.118832025G>A	GRCh37
NC_000008.9:g.118901206G>A	NCBI36
NG_007455.2:g.297034C>T , LRG_493:g.297034C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.893C>T
ENST00000378204.7:c.1426C>T MANE Select	ENSP00000367446.3:p.Pro476Ser
ENST00000378204.6:c.1426C>T	ENSP00000367446.2:p.Pro476Ser
ENST00000437196.1:c.*317C>T	ENSP00000407299.1:n.*317C>T
NM_000127.2:c.1426C>T , LRG_493t1:c.1426C>T	NP_000118.2:p.Pro476Ser
NM_000127.3:c.1426C>T MANE Select	NP_000118.2:p.Pro476Ser