Canonical Allele Identifier: CA385604245

Gene: GNS

Linked Data

• MyVariant Identifiers: chr12:g.65122773T>G (hg19) ; chr12:g.64728993T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64728993T>G , CM000674.2:g.64728993T>G	GRCh38
NC_000012.11:g.65122773T>G , CM000674.1:g.65122773T>G	GRCh37
NC_000012.10:g.63409040T>G	NCBI36
NG_008955.1:g.35454A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258145.8:c.1163A>C MANE Select	ENSP00000258145.3:p.Lys388Thr
ENST00000258145.7:c.1163A>C	ENSP00000258145.3:p.Lys388Thr
ENST00000418919.6:c.995A>C	ENSP00000413130.2:p.Lys332Thr
ENST00000537823.1:n.162A>C
ENST00000540196.5:c.557-5880A>C
ENST00000540883.1:n.226A>C
ENST00000541781.5:n.1218A>C
ENST00000542058.5:c.1103A>C	ENSP00000444819.1:p.Lys368Thr
ENST00000543646.5:c.1259A>C	ENSP00000438497.1:p.Lys420Thr
NM_002076.3:c.1163A>C	NP_002067.1:p.Lys388Thr
NM_002076.4:c.1163A>C MANE Select	NP_002067.1:p.Lys388Thr