Canonical Allele Identifier: CA385604246

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122774T>A (hg19) ; chr12:g.64728994T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728994T>A , CM000674.2:g.64728994T>A	GRCh38
NC_000012.11:g.65122774T>A , CM000674.1:g.65122774T>A	GRCh37
NC_000012.10:g.63409041T>A	NCBI36
NG_008955.1:g.35453A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258145.8:c.1162A>T MANE Select	ENSP00000258145.3:p.Lys388Ter
ENST00000258145.7:c.1162A>T	ENSP00000258145.3:p.Lys388Ter
ENST00000418919.6:c.994A>T	ENSP00000413130.2:p.Lys332Ter
ENST00000537823.1:n.161A>T
ENST00000540196.5:c.557-5881A>T
ENST00000540883.1:n.225A>T
ENST00000541781.5:n.1217A>T
ENST00000542058.5:c.1102A>T	ENSP00000444819.1:p.Lys368Ter
ENST00000543646.5:c.1258A>T	ENSP00000438497.1:p.Lys420Ter
NM_002076.3:c.1162A>T	NP_002067.1:p.Lys388Ter
NM_002076.4:c.1162A>T MANE Select	NP_002067.1:p.Lys388Ter