Canonical Allele Identifier: CA462465201

Gene: EXT1

Linked Data

• MyVariant Identifiers: chr8:g.118819548G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807309G>A , CM000670.2:g.117807309G>A	GRCh38
NC_000008.10:g.118819548G>A , CM000670.1:g.118819548G>A	GRCh37
NC_000008.9:g.118888729G>A	NCBI36
NG_007455.2:g.309511C>T , LRG_493:g.309511C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1258C>T
ENST00000378204.7:c.1791C>T MANE Select	ENSP00000367446.3:p.His597=
ENST00000378204.6:c.1791C>T	ENSP00000367446.2:p.His597=
ENST00000437196.1:c.*682C>T	ENSP00000407299.1:n.*682C>T
NM_000127.2:c.1791C>T , LRG_493t1:c.1791C>T	NP_000118.2:p.His597=
NM_000127.3:c.1791C>T MANE Select	NP_000118.2:p.His597=