Canonical Allele Identifier: CA7560672

Gene: GLDN

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51401658C>T , CM000677.2:g.51401658C>T	GRCh38
NC_000015.9:g.51693855C>T , CM000677.1:g.51693855C>T	GRCh37
NC_000015.8:g.49481147C>T	NCBI36
NG_054933.1:g.65143C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181789.4:c.1093C>T MANE Select	NP_861454.2:p.Leu365Phe
ENST00000335449.11:c.1093C>T MANE Select	ENSP00000335196.6:p.Leu365Phe
NM_001330297.1:c.721C>T	NP_001317226.1:p.Leu241Phe
NM_001330297.2:c.721C>T	NP_001317226.1:p.Leu241Phe
NM_181789.2:c.1093C>T	NP_861454.2:p.Leu365Phe
NM_181789.3:c.1093C>T	NP_861454.2:p.Leu365Phe
ENST00000335449.10:c.1093C>T	ENSP00000335196.6:p.Leu365Phe
ENST00000396399.6:c.721C>T	ENSP00000379681.2:p.Leu241Phe
ENST00000612989.1:c.721C>T	ENSP00000479249.1:p.Leu241Phe
XM_011521501.1:c.733C>T	XP_011519803.1:p.Leu245Phe
XM_011521501.2:c.733C>T	XP_011519803.1:p.Leu245Phe
XM_017022121.1:c.1075C>T	XP_016877610.1:p.Leu359Phe
XM_017022122.2:c.721C>T	XP_016877611.1:p.Leu241Phe
XM_017022124.2:c.721C>T	XP_016877613.1:p.Leu241Phe
XM_017022125.1:c.1093C>T	XP_016877614.1:p.Leu365Phe
XM_017022126.2:c.721C>T	XP_016877615.1:p.Leu241Phe