Canonical Allele Identifier: CA232285

Gene: FXYD5

Linked Data

• ClinVar Variation Id: 91979
• ClinVar RCV Id: RCV000122536
• dbSNP Id: rs386352302
• MyVariant Identifiers: chr19:g.35651692A>G (hg19) ; chr19:g.35160789A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35160789A>G , CM000681.2:g.35160789A>G	GRCh38
NC_000019.9:g.35651692A>G , CM000681.1:g.35651692A>G	GRCh37
NC_000019.8:g.40343532A>G	NCBI36
NG_047155.1:g.11074A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392219.7:c.280A>G MANE Select	ENSP00000376053.2:p.Ser94Gly
ENST00000342879.7:c.280A>G	ENSP00000344254.3:p.Ser94Gly
ENST00000392219.6:c.280A>G	ENSP00000376053.2:p.Ser94Gly
ENST00000423817.7:c.280A>G	ENSP00000393848.2:p.Ser94Gly
ENST00000496493.5:c.*207A>G	ENSP00000468168.1:n.*207A>G
ENST00000541435.6:c.280A>G	ENSP00000443390.1:p.Ser94Gly
ENST00000543307.5:c.280A>G	ENSP00000444839.1:p.Ser94Gly
ENST00000586925.1:n.27A>G
ENST00000588699.5:c.280A>G	ENSP00000467053.1:p.Ser94Gly
ENST00000590686.5:c.280A>G	ENSP00000465667.1:p.Ser94Gly
ENST00000591716.6:n.81A>G
ENST00000592290.5:c.*24A>G	ENSP00000465174.1:n.*24A>G
NM_001164605.1:c.280A>G	NP_001158077.1:p.Ser94Gly
NM_014164.5:c.280A>G	NP_054883.3:p.Ser94Gly
NM_144779.2:c.280A>G	NP_659003.1:p.Ser94Gly
NR_028406.1:n.1062A>G
XM_006723245.2:c.280A>G	XP_006723308.1:p.Ser94Gly
XM_006723246.2:c.280A>G	XP_006723309.1:p.Ser94Gly
XM_006723247.2:c.199+2389A>G	XP_006723310.1:n.199+2389A>G
NM_001320912.1:c.280A>G	NP_001307841.1:p.Ser94Gly
NM_001320913.1:c.199+2389A>G	NP_001307842.1:n.199+2389A>G
NM_001164605.2:c.280A>G	NP_001158077.1:p.Ser94Gly
NM_001320912.2:c.280A>G	NP_001307841.1:p.Ser94Gly
NM_001320913.2:c.199+2389A>G	NP_001307842.1:n.199+2389A>G
NM_014164.6:c.280A>G MANE Select	NP_054883.3:p.Ser94Gly
NM_144779.3:c.280A>G	NP_659003.1:p.Ser94Gly
NR_028406.2:n.1096A>G