Canonical Allele Identifier: CA2575214188

Gene: GNS

Linked Data

• gnomAD v4: 12-64728943-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728943G>A , CM000674.2:g.64728943G>A	GRCh38
NC_000012.11:g.65122723G>A , CM000674.1:g.65122723G>A	GRCh37
NC_000012.10:g.63408990G>A	NCBI36
NG_008955.1:g.35504C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258145.8:c.1200+13C>T MANE Select	ENSP00000258145.3:n.1200+13C>T
ENST00000258145.7:c.1200+13C>T	ENSP00000258145.3:n.1200+13C>T
ENST00000418919.6:c.1032+13C>T	ENSP00000413130.2:n.1032+13C>T
ENST00000537823.1:n.199+13C>T
ENST00000540196.5:c.557-5830C>T
ENST00000540883.1:n.263+13C>T
ENST00000541781.5:n.1255+13C>T
ENST00000542058.5:c.1140+13C>T	ENSP00000444819.1:n.1140+13C>T
ENST00000543646.5:c.1296+13C>T	ENSP00000438497.1:n.1296+13C>T
NM_002076.3:c.1200+13C>T	NP_002067.1:n.1200+13C>T
NM_002076.4:c.1200+13C>T MANE Select	NP_002067.1:n.1200+13C>T