Canonical Allele Identifier: CA385604231

Gene: GNS

Linked Data

• gnomAD v4: 12-64728990-G-T
• MyVariant Identifiers: chr12:g.65122770G>T (hg19) ; chr12:g.64728990G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728990G>T , CM000674.2:g.64728990G>T	GRCh38
NC_000012.11:g.65122770G>T , CM000674.1:g.65122770G>T	GRCh37
NC_000012.10:g.63409037G>T	NCBI36
NG_008955.1:g.35457C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258145.8:c.1166C>A MANE Select	ENSP00000258145.3:p.Thr389Lys
ENST00000258145.7:c.1166C>A	ENSP00000258145.3:p.Thr389Lys
ENST00000418919.6:c.998C>A	ENSP00000413130.2:p.Thr333Lys
ENST00000537823.1:n.165C>A
ENST00000540196.5:c.557-5877C>A
ENST00000540883.1:n.229C>A
ENST00000541781.5:n.1221C>A
ENST00000542058.5:c.1106C>A	ENSP00000444819.1:p.Thr369Lys
ENST00000543646.5:c.1262C>A	ENSP00000438497.1:p.Thr421Lys
NM_002076.3:c.1166C>A	NP_002067.1:p.Thr389Lys
NM_002076.4:c.1166C>A MANE Select	NP_002067.1:p.Thr389Lys