Canonical Allele Identifier: CA304461732

Gene: FSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4323192G>A , CM000681.2:g.4323192G>A	GRCh38
NC_000019.9:g.4323189G>A , CM000681.1:g.4323189G>A	GRCh37
NC_000019.8:g.4274189G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024333.3:c.1246G>A MANE Select	NP_077309.1:p.Ala416Thr
ENST00000221856.11:c.1246G>A MANE Select	ENSP00000221856.5:p.Ala416Thr
NM_001330429.1:c.1200+46G>A	NP_001317358.1:n.1200+46G>A
NM_001330429.2:c.1200+46G>A	NP_001317358.1:n.1200+46G>A
NM_024333.2:c.1246G>A	NP_077309.1:p.Ala416Thr
ENST00000221856.10:c.1246G>A	ENSP00000221856.5:p.Ala416Thr
ENST00000594438.1:c.158G>A
ENST00000597480.1:c.459-380G>A
ENST00000597590.5:c.1200+46G>A	ENSP00000473022.1:n.1200+46G>A
ENST00000598179.1:n.1125G>A
XM_005259644.2:c.1200+46G>A	XP_005259701.1:n.1200+46G>A